Expansion of phenotype of DDX3X syndrome: six new cases
- Beal, Bryony, Hayes, Ian, Mcgaughran, Julie, Amor, David J., Miteff, Christina, Jackson, Victoria, van Reyk, Olivia, Subramanian, Gopinath, Hildebrand, Michael S., Morgan, Angela T., Goel, Himanshu
- Creator: Beal, Bryony , Hayes, Ian , Mcgaughran, Julie , Amor, David J. , Miteff, Christina , Jackson, Victoria , van Reyk, Olivia , Subramanian, Gopinath , Hildebrand, Michael S. , Morgan, Angela T. , Goel, Himanshu
- Resource Type: journal article
- Date: 2019
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
- Ben-Mahmoud, Afif, Kishikawa, Shotaro, Gupta, Vijay, Leach, Natalie T., Shen, Yiping, Moldovan, Oana, Goel, Himanshu, Hopper, Bruce, Ranguin, Kara, Gruchy, Nicolas, Maas, Saskia M., Lacassie, Yves, Kim, Soo-Hyun, Kim, Woo-Yang, Quade, Bradley J., Morton, Cynthia C., Kim, Cheol-Hee, Layman, Lawrence C., Kim, Hyung-Goo
- Creator: Ben-Mahmoud, Afif , Kishikawa, Shotaro , Gupta, Vijay , Leach, Natalie T. , Shen, Yiping , Moldovan, Oana , Goel, Himanshu , Hopper, Bruce , Ranguin, Kara , Gruchy, Nicolas , Maas, Saskia M. , Lacassie, Yves , Kim, Soo-Hyun , Kim, Woo-Yang , Quade, Bradley J. , Morton, Cynthia C. , Kim, Cheol-Hee , Layman, Lawrence C. , Kim, Hyung-Goo
- Resource Type: journal article
- Date: 2023
- Creator: Ben-Mahmoud, Afif , Kishikawa, Shotaro , Gupta, Vijay , Leach, Natalie T. , Shen, Yiping , Moldovan, Oana , Goel, Himanshu , Hopper, Bruce , Ranguin, Kara , Gruchy, Nicolas , Maas, Saskia M. , Lacassie, Yves , Kim, Soo-Hyun , Kim, Woo-Yang , Quade, Bradley J. , Morton, Cynthia C. , Kim, Cheol-Hee , Layman, Lawrence C. , Kim, Hyung-Goo
- Resource Type: journal article
- Date: 2023
- Bournazos, Adam M., Riley, Lisa G., Beshay, Victoria, Boggs, Kirsten, Bojadzieva, Jasmina, Brown, Natasha J., Bryen, Samantha J., Buckley, Michael F., Chong, Belinda, Davis, Mark R., Dawes, Ruebena, Delatycki, Martin, Bommireddipalli, Shobhana, Donaldson, L, Downie, L, Edwards, C, Edwards, M, Engel, A, Ewans, LJ, Faiz, F, Fennell, A, Field, M, Freckmann, ML, Ades, Lesley, Gallacher, L, Gear, R, Goel, Himanshu, Goh, S, Goodwin, L, Hanna, B, Harraway, J, Higgins, M, Ho, G, Hopper, BK, Akesson, Lauren S., Horton, AE, Hunter, MF, Huq, AJ, Josephi-Taylor, S, Joshi, H, Kirk, E, Krzesinski, E, Kumar, KR, Lemckert, F, Leventer, RJ, Al-Shinnag, Mohammad, Lindsey-Temple, SE, Lunke, S, Ma, A, Macaskill, S, Mallawaarachchi, A, Marty, M, Marum, JE, McCarthy, HJ, Menezes, MP, McLean, A, Alexander, Stephen I., Milnes, D, Mohammad, S, Mowat, D, Niaz, A, Palmer, EE, Patel, C, Patel, SG, Phelan, D, Pinner, JR, Rajagopalan, S, Archibald, Alison D., Regan, M, Rodgers, J, Rodrigues, M, Roxburgh, RH, Sachdev, R, Roscioli, T, Samarasekera, R, Sandaradura, SA, Savva, E, Schindler, T, Balasubramaniam, Shanti, Shah, M, Sinnerbrink, IB, Smith, JM, Smith, RJ, Springer, A, Stark, Z, Strom, SP, Sue, CM, Tan, K, Tan, TY, Berman, Yemima, Tantsis, E, Tchan, MC, Thompson, BA, Trainer, AH, van Spaendonck-Zwarts, K, Walsh, R, Warwick, L, White, S, White, SM, Williams, MG
- Creator: Bournazos, Adam M. , Riley, Lisa G. , Beshay, Victoria , Boggs, Kirsten , Bojadzieva, Jasmina , Brown, Natasha J. , Bryen, Samantha J. , Buckley, Michael F. , Chong, Belinda , Davis, Mark R. , Dawes, Ruebena , Delatycki, Martin , Bommireddipalli, Shobhana , Donaldson, L , Downie, L , Edwards, C , Edwards, M , Engel, A , Ewans, LJ , Faiz, F , Fennell, A , Field, M , Freckmann, ML , Ades, Lesley , Gallacher, L , Gear, R , Goel, Himanshu , Goh, S , Goodwin, L , Hanna, B , Harraway, J , Higgins, M , Ho, G , Hopper, BK , Akesson, Lauren S. , Horton, AE , Hunter, MF , Huq, AJ , Josephi-Taylor, S , Joshi, H , Kirk, E , Krzesinski, E , Kumar, KR , Lemckert, F , Leventer, RJ , Al-Shinnag, Mohammad , Lindsey-Temple, SE , Lunke, S , Ma, A , Macaskill, S , Mallawaarachchi, A , Marty, M , Marum, JE , McCarthy, HJ , Menezes, MP , McLean, A , Alexander, Stephen I. , Milnes, D , Mohammad, S , Mowat, D , Niaz, A , Palmer, EE , Patel, C , Patel, SG , Phelan, D , Pinner, JR , Rajagopalan, S , Archibald, Alison D. , Regan, M , Rodgers, J , Rodrigues, M , Roxburgh, RH , Sachdev, R , Roscioli, T , Samarasekera, R , Sandaradura, SA , Savva, E , Schindler, T , Balasubramaniam, Shanti , Shah, M , Sinnerbrink, IB , Smith, JM , Smith, RJ , Springer, A , Stark, Z , Strom, SP , Sue, CM , Tan, K , Tan, TY , Berman, Yemima , Tantsis, E , Tchan, MC , Thompson, BA , Trainer, AH , van Spaendonck-Zwarts, K , Walsh, R , Warwick, L , White, S , White, SM , Williams, MG
- Resource Type: journal article
- Date: 2022
OTX2 duplications: A recurrent cause of oculo-auriculo-vertebral spectrum
- Celse, Tristan, Tingaud-Sequeira, Angèle, Satre, Véronique, Vieville, Gaelle, Bidart, Marie, Zander, Cecilia Soussi, Turesson, Ann-Charlotte, Splitt, Miranda, Reboul, Dorothee, Chiesa, Jean, Van Kien, Philippe Khau, Godin, Manon, Dieterich, Klaus, Gruchy, Nicolas, Goel, Himanshu, Palmer, E, Demetriou, K, Shalhoub, C, Rooryck-Thambo, C, Coutton, C, Siegfried, Geraldine, Lecaignec, Cédric, Bouneau, Laurence, Fannemel, Madeleine, Salaun, Gaelle, Laffargue, Fanny, Martinez, Guillaume
- Creator: Celse, Tristan , Tingaud-Sequeira, Angèle , Satre, Véronique , Vieville, Gaelle , Bidart, Marie , Zander, Cecilia Soussi , Turesson, Ann-Charlotte , Splitt, Miranda , Reboul, Dorothee , Chiesa, Jean , Van Kien, Philippe Khau , Godin, Manon , Dieterich, Klaus , Gruchy, Nicolas , Goel, Himanshu , Palmer, E , Demetriou, K , Shalhoub, C , Rooryck-Thambo, C , Coutton, C , Siegfried, Geraldine , Lecaignec, Cédric , Bouneau, Laurence , Fannemel, Madeleine , Salaun, Gaelle , Laffargue, Fanny , Martinez, Guillaume
- Resource Type: journal article
- Date: 2022
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
- Crow, Yanick J., Marshall, Heather, Bolduc, Francois, Boddaert, Natalie, Buckard, Johannes, Burnett, Heather, Calvert, Sophie, Caumes, Roseline, Ng, Andy Cheuk-Him, Chiang, Diana, Clifford, David B., Cordelli, Duccio M., Rice, Gillian I., Goel, Himanshu, Demic, N, Desguerre, I, De Waele, L, Di Fonzo, A, Dunham, SR, Dyack, S, Elmslie, F, Ferrand, M, Fisher, G, Seabra, Luis, Karimiani, EG, Ghoumid, J, Gibbon, F, Goel, H, Hilmarsen, HT, Hughes, I, Jacob, A, Jones, EA, Kumar, R, Leventer, RJ, Jenkinson, Emma M., MacDonald, S, Maroofian, R, Mehta, SG, Metz, I, Monfrini, E, Neumann, D, Noetzel, M, O'Driscoll, M, Õunap, K, Panzer, A, Baranano, Kristin, Parikh, S, Prabhakar, P, Ramond, F, Sandford, R, Saneto, R, Soh, C, Stutterd, CA, Subramanian, GM, Talbot, K, Thomas, RH, Battini, Roberta, Toro, C, Touraine, R, Wakeling, E, Wassmer, E, Whitney, A, Livingston, JH, O'Keefe, RT, Badrock, AP, Berger, Andrea, Blair, Edward, Blauwblomme, Thomas
- Creator: Crow, Yanick J. , Marshall, Heather , Bolduc, Francois , Boddaert, Natalie , Buckard, Johannes , Burnett, Heather , Calvert, Sophie , Caumes, Roseline , Ng, Andy Cheuk-Him , Chiang, Diana , Clifford, David B. , Cordelli, Duccio M. , Rice, Gillian I. , Goel, Himanshu , Demic, N , Desguerre, I , De Waele, L , Di Fonzo, A , Dunham, SR , Dyack, S , Elmslie, F , Ferrand, M , Fisher, G , Seabra, Luis , Karimiani, EG , Ghoumid, J , Gibbon, F , Goel, H , Hilmarsen, HT , Hughes, I , Jacob, A , Jones, EA , Kumar, R , Leventer, RJ , Jenkinson, Emma M. , MacDonald, S , Maroofian, R , Mehta, SG , Metz, I , Monfrini, E , Neumann, D , Noetzel, M , O'Driscoll, M , Õunap, K , Panzer, A , Baranano, Kristin , Parikh, S , Prabhakar, P , Ramond, F , Sandford, R , Saneto, R , Soh, C , Stutterd, CA , Subramanian, GM , Talbot, K , Thomas, RH , Battini, Roberta , Toro, C , Touraine, R , Wakeling, E , Wassmer, E , Whitney, A , Livingston, JH , O'Keefe, RT , Badrock, AP , Berger, Andrea , Blair, Edward , Blauwblomme, Thomas
- Resource Type: journal article
- Date: 2021
A de novo mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome
- Dunkerton, Sophie, Field, Matthew, Cho, Vicki, Bertram, Edward, Whittle, Belinda, Groves, Alexandra, Goel, Himanshu
- Creator: Dunkerton, Sophie , Field, Matthew , Cho, Vicki , Bertram, Edward , Whittle, Belinda , Groves, Alexandra , Goel, Himanshu
- Resource Type: journal article
- Date: 2015
- Francis, David I., Stark, Zornitza, Krzesinski, Emma I., Vasudevan, Anand, Oertel, Ralph, Petrovic, Vida, Boys, Amber, Wei, Vivian, Burgess, Trent, Dun, Karen, Oliver, Karen L., Baxter, Anne, Scheffer, Ingrid E., Hackett, Anna, Ayres, S, Lunke, S, Kalitsis, P, Wall, M, Tan, Tiong Yang, Murali, Krithika, Gallacher, Lyndon, Amor, David J., Goel, Himanshu, Downie, Lilian, Stutterd, Chloe A.
- Creator: Francis, David I. , Stark, Zornitza , Krzesinski, Emma I. , Vasudevan, Anand , Oertel, Ralph , Petrovic, Vida , Boys, Amber , Wei, Vivian , Burgess, Trent , Dun, Karen , Oliver, Karen L. , Baxter, Anne , Scheffer, Ingrid E. , Hackett, Anna , Ayres, S , Lunke, S , Kalitsis, P , Wall, M , Tan, Tiong Yang , Murali, Krithika , Gallacher, Lyndon , Amor, David J. , Goel, Himanshu , Downie, Lilian , Stutterd, Chloe A.
- Resource Type: journal article
- Date: 2023
Carbimazole/methimazole embryopathy in siblings: a possible genetic susceptibility
- Goel, Himanshu, Dudding, Tracy
- Creator: Goel, Himanshu , Dudding, Tracy
- Resource Type: journal article
- Date: 2013
- Creator: Goel, Himanshu , Dudding, Tracy
- Resource Type: journal article
- Date: 2013
Long-term efficacy of oral deferiprone in management of iron overload in beta thalassemia major
- Goel, Himanshu, Girisha, K. M., Phadke, Shubha
- Creator: Goel, Himanshu , Girisha, K. M. , Phadke, Shubha
- Resource Type: journal article
- Date: 2008
Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant
- Goel, Himanshu, O'Donnell, Sheridan, Roscioli, Tony, Hart, Francesca
- Creator: Goel, Himanshu , O'Donnell, Sheridan , Roscioli, Tony , Hart, Francesca
- Resource Type: journal article
- Date: 2024
Expanding the phenotype of intellectual disability caused by HIVEP2 variants
- Goldsmith, Heidi, Wells, Anna, Sá, Maria J. N., Williams, Mark, Heussler, Helen, Buckman, Melissa, Pfundt, Rolph, de Vries, Bert B. A., Goel, Himanshu
- Creator: Goldsmith, Heidi , Wells, Anna , Sá, Maria J. N. , Williams, Mark , Heussler, Helen , Buckman, Melissa , Pfundt, Rolph , de Vries, Bert B. A. , Goel, Himanshu
- Resource Type: journal article
- Date: 2019
Mandibulofacial dysostosis with microcephaly: mutation and database update
- Huang, Lijia, Vanstone, Megan R., Estrella, Jane, Faghfoury, Hanna, Favaro, Francine P., Goel, Himanshu, Gregersen, Pernille A., Gripp, Karen W., Grix, Art, Guion-Almeida, Maria-Leine, Harr, Margaret H., Hudson, Cindy, Hartley, Taila, Hunter, Alasdair G. W., Johnson, John, Joss, Shelagh K., Kimball, Amy, Kini, Usha, Kline, Antoine D., Lauzon, Julie, Lildballe, Dorte L., López-González, Vanesa, Martinezmoles, Johanna, Osmond, Matthew, Meldrum, Cliff, Mirzaa, Ghayda M., Morel, Chantal F., Morton, Jenny E. V., Pyle, Louise C., Quintero-Rivera, Fabiola, Richer, Julie, Scheuerle, Angela E., Schönewolf-Greulich, Bitten, Shears, Deborah J., Barrowman, Nick, Silver, Josh, Smith, Amanda C., Temple, I. Karen, van de Kamp, Jiddeke M., van Dijk, Fleur S., Vandersteen, Anthony M., White, Sue M., Zackai, Elaine H., Zou, Ruobing, Consortium, Care4Rare Canada, Allanson, Judith, Bulman, Dennis E., Boycott, Kym M., Lines, Matthew A., Baker, Laura, Dabir, Tabib A., Dipple, Katrina M., Dobyns, William B.
- Creator: Huang, Lijia , Vanstone, Megan R. , Estrella, Jane , Faghfoury, Hanna , Favaro, Francine P. , Goel, Himanshu , Gregersen, Pernille A. , Gripp, Karen W. , Grix, Art , Guion-Almeida, Maria-Leine , Harr, Margaret H. , Hudson, Cindy , Hartley, Taila , Hunter, Alasdair G. W. , Johnson, John , Joss, Shelagh K. , Kimball, Amy , Kini, Usha , Kline, Antoine D. , Lauzon, Julie , Lildballe, Dorte L. , López-González, Vanesa , Martinezmoles, Johanna , Osmond, Matthew , Meldrum, Cliff , Mirzaa, Ghayda M. , Morel, Chantal F. , Morton, Jenny E. V. , Pyle, Louise C. , Quintero-Rivera, Fabiola , Richer, Julie , Scheuerle, Angela E. , Schönewolf-Greulich, Bitten , Shears, Deborah J. , Barrowman, Nick , Silver, Josh , Smith, Amanda C. , Temple, I. Karen , van de Kamp, Jiddeke M. , van Dijk, Fleur S. , Vandersteen, Anthony M. , White, Sue M. , Zackai, Elaine H. , Zou, Ruobing , Consortium, Care4Rare Canada , Allanson, Judith , Bulman, Dennis E. , Boycott, Kym M. , Lines, Matthew A. , Baker, Laura , Dabir, Tabib A. , Dipple, Katrina M. , Dobyns, William B.
- Resource Type: journal article
- Date: 2015
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease
- Huynh, Vinh T., Audrézet, Marie-Pierre, Sayer, John A., Ong, Albert C., Lefevre, Siriane, Le Brun, Valoris, Després, Aurore, Senum, Sarah R., Chebib, Fouad T., Barroso-Gil, Miguel, Patel, Chirag, Mallett, Andrew J., Goel, Himanshu, Mallawaarachchi, Amali C., Van Eerde, Albertien M., Ponlot, Eleonore, Kribs, Marc
- Creator: Huynh, Vinh T. , Audrézet, Marie-Pierre , Sayer, John A. , Ong, Albert C. , Lefevre, Siriane , Le Brun, Valoris , Després, Aurore , Senum, Sarah R. , Chebib, Fouad T. , Barroso-Gil, Miguel , Patel, Chirag , Mallett, Andrew J. , Goel, Himanshu , Mallawaarachchi, Amali C. , Van Eerde, Albertien M. , Ponlot, Eleonore , Kribs, Marc
- Resource Type: journal article
- Date: 2020
- Jenkinson, Emma M., Rodero, Mathieu P., Bhaskar, Sanjeev S., O'Sullivan, James, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Kasher, Paul R., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Uggenti, Carolina, Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Oojageer, Anthony, Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Geraldine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Goosey, Laurence C., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E. G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rose, Yoann, Rice, Gillian I., Revy, Patrick, van der Knaap, Margo S., Livingston, John H., O'Keefe, Raymond T., Crow, Yanick J., Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G.
- Creator: Jenkinson, Emma M. , Rodero, Mathieu P. , Bhaskar, Sanjeev S. , O'Sullivan, James , Baerlocher, Gabriela M. , Haubitz, Monika , Aubert, Geraldine , Barañano, Kristin W. , Barnicoat, Angela J. , Battini, Roberta , Berger, Andrea , Blair, Edward M. , Kasher, Paul R. , Brunstrom-Hernandez, Janice E. , Buckard, Johannes A. , Cassiman, David M. , Caumes, Rosaline , Cordelli, Duccio M. , De Waele, Liesbeth M. , Fay, Alexander J. , Ferreira, Patrick , Fletcher, Nicholas A. , Fryer, Alan E. , Uggenti, Carolina , Goel, Himanshu , Hemingway, Cheryl A. , Henneke, Marco , Hughes, Imelda , Jefferson, Rosalind J. , Kumar, Ram , Lagae, Lieven , Landrieu, Pierre G. , Lourenço, Charles M. , Malpas, Timothy J. , Oojageer, Anthony , Mehta, Sarju G. , Metz, Imke , Naidu, Sakkubai , Õunap, Katrin , Panzer, Axel , Prabhakar, Prab , Quaghebeur, Geraldine , Schiffmann, Raphael , Sherr, Elliott H. , Sinnathuray, Kanaga R. , Goosey, Laurence C. , Soh, Calvin , Stewart, Helen S. , Stone, John , Van Esch, Hilde , Van Mol, Christine E. G. , Vanderver, Adeline , Wakeling, Emma L. , Whitney, Andrea , Pavitt, Graham D. , Griffiths-Jones, Sam , Rose, Yoann , Rice, Gillian I. , Revy, Patrick , van der Knaap, Margo S. , Livingston, John H. , O'Keefe, Raymond T. , Crow, Yanick J. , Kershaw, Christopher J. , Urquhart, Jill E. , Williams, Simon G.
- Resource Type: journal article
- Date: 2016
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance
- Leffler, Melanie, Christie, Louise, Hackett, Anna, Bennetts, Bruce, Goel, Himanshu, Amor, David J., Peters, Greg B., Field, Michael, Dudding-Byth, Tracy
- Creator: Leffler, Melanie , Christie, Louise , Hackett, Anna , Bennetts, Bruce , Goel, Himanshu , Amor, David J. , Peters, Greg B. , Field, Michael , Dudding-Byth, Tracy
- Resource Type: journal article
- Date: 2023
- Creator: Leffler, Melanie , Christie, Louise , Hackett, Anna , Bennetts, Bruce , Goel, Himanshu , Amor, David J. , Peters, Greg B. , Field, Michael , Dudding-Byth, Tracy
- Resource Type: journal article
- Date: 2023
DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency
- Logan, Clare V., Murray, Jennie E., Parry, David A., Robertson, Andrea, Bellelli, Roberto, Tarnauskaitė, Žygimantė, Challis, Rachel, Cleal, Louise, Borel, Valerie, Fluteau, Adeline, Santoyo-Lopez, Javier, Aitman, Timothy J., Biankin, Andrew V., Cooke, Susanna L., Humphrey, Wendy Inglis, Martin, Sacha, Mennie, Lynne, Meynert, Alison, Miedzybrodzka, Zosia, Murphy, Fiona, Goel, Himanshu
- Creator: Logan, Clare V. , Murray, Jennie E. , Parry, David A. , Robertson, Andrea , Bellelli, Roberto , Tarnauskaitė, Žygimantė , Challis, Rachel , Cleal, Louise , Borel, Valerie , Fluteau, Adeline , Santoyo-Lopez, Javier , Aitman, Timothy J. , Biankin, Andrew V. , Cooke, Susanna L. , Humphrey, Wendy Inglis , Martin, Sacha , Mennie, Lynne , Meynert, Alison , Miedzybrodzka, Zosia , Murphy, Fiona , Goel, Himanshu
- Resource Type: journal article
- Date: 2018
- Creator: Logan, Clare V. , Murray, Jennie E. , Parry, David A. , Robertson, Andrea , Bellelli, Roberto , Tarnauskaitė, Žygimantė , Challis, Rachel , Cleal, Louise , Borel, Valerie , Fluteau, Adeline , Santoyo-Lopez, Javier , Aitman, Timothy J. , Biankin, Andrew V. , Cooke, Susanna L. , Humphrey, Wendy Inglis , Martin, Sacha , Mennie, Lynne , Meynert, Alison , Miedzybrodzka, Zosia , Murphy, Fiona , Goel, Himanshu
- Resource Type: journal article
- Date: 2018
Association of pro/anti-infl ammatory cytokine gene variants in renal transplant patients with allograft outcome and cyclosporine immunosuppressant levels
- Manchanda, Parmeet Kaur, Kumar, Anant, Sharma, Raj K., Goel, Himanshu, Mittal, Rama Devi
- Creator: Manchanda, Parmeet Kaur , Kumar, Anant , Sharma, Raj K. , Goel, Himanshu , Mittal, Rama Devi
- Resource Type: journal article
- Date: 2008
- Creator: Manchanda, Parmeet Kaur , Kumar, Anant , Sharma, Raj K. , Goel, Himanshu , Mittal, Rama Devi
- Resource Type: journal article
- Date: 2008
- Mandrile, Giorgia, Di Gregorio, Eleonora, Goel, Himanshu, Giachino, Daniela, De Mercanti, Stefania, Iudicello, Marco, Rolando, Marco, Losa, Sabrina, De Marchi, Mario, Brusco, Alfredo
- Creator: Mandrile, Giorgia , Di Gregorio, Eleonora , Goel, Himanshu , Giachino, Daniela , De Mercanti, Stefania , Iudicello, Marco , Rolando, Marco , Losa, Sabrina , De Marchi, Mario , Brusco, Alfredo
- Resource Type: journal article
- Date: 2016
- McClelland, Jessie, Burgess, Bronwyn, Crock, Patricia, Goel, Himanshu
- Creator: McClelland, Jessie , Burgess, Bronwyn , Crock, Patricia , Goel, Himanshu
- Resource Type: journal article
- Date: 2016
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
- Meester, Josephina A. N., Hebert, Anne, Blankensteijn, Jan D., Brennan, Paul, Bucks, Stephanie A., Campbell, Ian M., Conrad, Solène, Curtis, Stephanie L., Dasouki, Majed, Dent, Carolyn L., Eden, James, Goel, Himanshu, Bastiaansen, Maaike, Oakley, Stephen P., Houweling, AC, Isidor, B, Jackson, N, Koopman, P, Korpioja, A, Kraatari-Tiri, M, Kuulavainen, L, Lee, K, Low, KJ, Rabaut, Laura, Lu, AC, McManus, ML, Oakley, SP, Oliver, J, Organ, NM, Overwater, E, Revencu, N, Trainer, AH, Trivedi, B, Turner, CLS, Bastianen, Jarl, Whittington, R, Zankl, A, Zentner, D, Van Laer, L, Verstraeten, A, Loeys, BL, Boeckx, Nele, Ashcroft, Kathryn, Atwal, Paldeep S., Benichou, Antoine, Billon, Clarisse
- Creator: Meester, Josephina A. N. , Hebert, Anne , Blankensteijn, Jan D. , Brennan, Paul , Bucks, Stephanie A. , Campbell, Ian M. , Conrad, Solène , Curtis, Stephanie L. , Dasouki, Majed , Dent, Carolyn L. , Eden, James , Goel, Himanshu , Bastiaansen, Maaike , Oakley, Stephen P. , Houweling, AC , Isidor, B , Jackson, N , Koopman, P , Korpioja, A , Kraatari-Tiri, M , Kuulavainen, L , Lee, K , Low, KJ , Rabaut, Laura , Lu, AC , McManus, ML , Oakley, SP , Oliver, J , Organ, NM , Overwater, E , Revencu, N , Trainer, AH , Trivedi, B , Turner, CLS , Bastianen, Jarl , Whittington, R , Zankl, A , Zentner, D , Van Laer, L , Verstraeten, A , Loeys, BL , Boeckx, Nele , Ashcroft, Kathryn , Atwal, Paldeep S. , Benichou, Antoine , Billon, Clarisse
- Resource Type: journal article
- Date: 2024