Parents’ Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling
Hayeems, R. Z., Babul-Hirji, R., Hoang, N., Weksberg, R., Shuman, C.
Published in Journal of genetic counseling (01.04.2016)
Published in Journal of genetic counseling (01.04.2016)
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First‐trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndrome
Johnson, J.M., Babul‐Hirji, R., Chitayat, D.
Published in Ultrasound in obstetrics & gynecology (01.04.2001)
Published in Ultrasound in obstetrics & gynecology (01.04.2001)
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The mutational spectrum of human malignant autosomal recessive osteopetrosis
SOBACCHI, Cristina, FRATTINI, Annalisa, DUPUIS-GIROD, Sophie, ELLIS, Ian, ETZIONI, Amos, FASTH, Anders, FISHER, Alain, GERRITSEN, Bert, GULINO, Virginia, HORWITZ, Edwin, KLAMROTH, Verena, LANINO, Edoardo, ORCHARD, Paul, MIROLO, Massimiliano, MUSIO, Antonio, MATTHIJS, Gert, NONOMAYA, Shigeaki, NOTARANGELO, Luigi D, OCHS, Hans D, SUPERTI FURGA, Andrea, VALIAHO, Jouni, VAN HOVE, Johan L. K, VIHINEN, Mauno, PORRAS, Oscar, VUJIC, Dragana, VEZZONI, Paolo, VILLA, Anna, TEZCAN, Ilhan, ANDOLINA, Marino, BABUL-HIRJI, Riyana, BARIC, Ivo, CANHAM, Natalie, CHITAYAT, David
Published in Human molecular genetics (15.08.2001)
Published in Human molecular genetics (15.08.2001)
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Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Warman, Matthew L, Gong, Yaoqin, Krakow, Deborah, Marcelino, Jose, Wilkin, Douglas, Chitayat, David, Babul-Hirji, Riyana, Hudgins, Louanne, Cremers, Cor W, Cremers, Frans P.M, Brunner, Han G, Reinker, Kent, Rimoin, David L, Cohn, Daniel H, Goodman, Frances R, Reardon, William, Patton, Michael, Francomano, Clair A
Published in Nature genetics (01.03.1999)
Published in Nature genetics (01.03.1999)
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A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
WINTER, H, ROGERS, M. A, GEBHARDT, M, WOLLINA, U, BOXALL, L, CHITAYAT, D, BABUL-HIRJI, R, STEVENS, H. P, ZLOTOGORSKI, A, SCHWEIZER, J
Published in Human genetics (01.12.1997)
Published in Human genetics (01.12.1997)
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A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease
Georgiou, Domna-Maria, Nicolaou, Paschalis, Chitayat, David, Koutsou, Pantelitsa, Babul-Hirji, Riyana, Vajsar, Jiri, Murphy, Jillian, Christodoulou, Kyproula
Published in Canadian journal of neurological sciences (01.08.2006)
Published in Canadian journal of neurological sciences (01.08.2006)
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Cavum veli interpositi: prenatal diagnosis and postnatal outcome
Shah, Prakesh S., Blaser, Susan, Toi, Ants, Fong, Katherine, Glanc, Phyllis, Babul‐Hirji, Riyana, Rutka, James, Chitayat, David
Published in Prenatal diagnosis (01.07.2005)
Published in Prenatal diagnosis (01.07.2005)
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Brachydactyly Type B: Clinical Description, Genetic Mapping to Chromosome 9q, and Evidence for a Shared Ancestral Mutation
Gong, Yaoqin, Chitayat, David, Kerr, Bronwyn, Chen, Taiping, Babul-Hirji, Riyana, Pal, Adatiya, Reiss, Michael, Warman, Matthew L.
Published in American journal of human genetics (01.02.1999)
Published in American journal of human genetics (01.02.1999)
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Patient perspectives on the process of informed consent for DNA testing
Cytrynbaum, C., Babul-Hirji, R., Rowell, M., Henderson, K., Australie, K., Druker, H., Dupuis, L., Quercia, N., Shuman, C., Kennedy, S.
Published in Genetics in medicine (01.01.2000)
Published in Genetics in medicine (01.01.2000)
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Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data
Allingham-Hawkins, D J, Babul-Hirji, R, Chitayat, D, Holden, J J, Yang, K T, Lee, C, Hudson, R, Gorwill, H, Nolin, S L, Glicksman, A, Jenkins, E C, Brown, W T, Howard-Peebles, P N, Becchi, C, Cummings, E, Fallon, L, Seitz, S, Black, S H, Vianna-Morgante, A M, Costa, S S, Otto, P A, Mingroni-Netto, R C, Murray, A, Webb, J, Vieri, F
Published in American journal of medical genetics (02.04.1999)
Published in American journal of medical genetics (02.04.1999)
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