The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up

por Ejaz, Resham, Babul‐Hirji, Riyana, Chitayat, David
Publicado 2016

Genetic counselling for infertile men of known and unknown etiology

por Babul-Hirji, Riyana, Hirji, Ruqayya, Chitayat, David
Publicado 2021

Parental Preferences for Expanded Newborn Screening: What Are the Limits?

por Liang, Nicole S. Y., Watts-Dickens, Abby, Chitayat, David, Babul-Hirji, Riyana, Chakraborty, Pranesh, Hayeems, Robin Z.
Publicado 2023

A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus

por Takai, Hiroyuki, Jenkinson, Emma, Kabir, Shaheen, Babul-Hirji, Riyana, Najm-Tehrani, Nasrin, Chitayat, David A., Crow, Yanick J., de Lange, Titia
Publicado 2016

CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence

por Silveira, Karina C., Fonseca, Inara Chacon, Oborn, Connor, Wengryn, Parker, Ghafoor, Saima, Beke, Alexander, Dreseris, Ema S., Wong, Cassandra, Iacovone, Aline, Soltys, Carrie-Lynn, Babul-Hirji, Riyana, Artigalas, Osvaldo, Antolini-Tavares, Arthur, Gingras, Anne-Claude, Campos, Eric, Cavalcanti, Denise P., Kannu, Peter
Publicado 2023

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

por Buysse, Karen, Riemersma, Moniek, Powell, Gareth, van Reeuwijk, Jeroen, Chitayat, David, Roscioli, Tony, Kamsteeg, Erik-Jan, van den Elzen, Christa, van Beusekom, Ellen, Blaser, Susan, Babul-Hirji, Riyana, Halliday, William, Wright, Gavin J., Stemple, Derek L., Lin, Yung-Yao, Lefeber, Dirk J., van Bokhoven, Hans
Publicado 2013

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

por Stavropoulos, Dimitri J, Merico, Daniele, Jobling, Rebekah, Bowdin, Sarah, Monfared, Nasim, Thiruvahindrapuram, Bhooma, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Yuen, Ryan K C, Szego, Michael J, Hayeems, Robin Z, Shaul, Randi Zlotnik, Brudno, Michael, Girdea, Marta, Frey, Brendan, Alipanahi, Babak, Ahmed, Sohnee, Babul-Hirji, Riyana, Porras, Ramses Badilla, Carter, Melissa T, Chad, Lauren, Chaudhry, Ayeshah, Chitayat, David, Doust, Soghra Jougheh, Cytrynbaum, Cheryl, Dupuis, Lucie, Ejaz, Resham, Fishman, Leona, Guerin, Andrea, Hashemi, Bita, Helal, Mayada, Hewson, Stacy, Inbar-Feigenberg, Michal, Kannu, Peter, Karp, Natalya, Kim, Raymond H, Kronick, Jonathan, Liston, Eriskay, MacDonald, Heather, Mercimek-Mahmutoglu, Saadet, Mendoza-Londono, Roberto, Nasr, Enas, Nimmo, Graeme, Parkinson, Nicole, Quercia, Nada, Raiman, Julian, Roifman, Maian, Schulze, Andreas, Shugar, Andrea, Shuman, Cheryl, Sinajon, Pierre, Siriwardena, Komudi, Weksberg, Rosanna, Yoon, Grace, Carew, Chris, Erickson, Raith, Leach, Richard A, Klein, Robert, Ray, Peter N, Meyn, M Stephen, Scherer, Stephen W, Cohn, Ronald D, Marshall, Christian R
Publicado 2016