De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay -
Jessica X. Chong,
Margaret J. McMillin,
Kathryn M. Shively,
Anita E. Beck,
Colby T. Marvin,
Jose R. Armenteros,
Kati J. Buckingham,
Naomi T. Nkinsi,
Evan A. Boyle,
Margaret N. Berry,
Maureen Bocian,
Nicola Foulds,
Maria Luisa Giovannucci Uzielli,
Chad Haldeman-Englert,
Raoul C.M. Hennekam,
Paige Kaplan,
Antonie D. Kline,
Catherine L. Mercer,
Malgorzata J.M. Nowaczyk,
Jolien S. Klein Wassink-Ruiter,
Elizabeth W. McPherson,
Regina A. Moreno,
Angela E. Scheuerle,
Vandana Shashi,
Cathy A. Stevens,
John C. Carey,
Arnaud Monteil,
Philippe Lory,
Holly K. Tabor,
Joshua D. Smith,
Jay Shendure,
Deborah A. Nickerson and
Michael J. Bamshad
Type: Article
| 2015
| Item not available on this server.
Mandibulofacial dysostosis with microcephaly: mutation and database update -
Lijia Huang,
Megan R. Vanstone,
Taila Hartley,
Matthew Osmond,
Nick Barrowman,
Judith Allanson,
Laura Baker,
Tabib A. Dabir,
Katrina M. Dipple,
William B. Dobyns,
Jane Estrella,
Hanna Faghfoury,
Francine P. Favaro,
Himanshu Goel,
Pernille A. Gregersen,
Karen W. Gripp,
Art Grix,
Maria-Leine Guion-Almeida,
Margaret H. Harr,
Cindy Hudson,
Alasdair G.W. Hunter,
John Johnson,
Shelagh K. Joss,
Amy Kimball,
Usha Kini,
Antonie D. Kline,
Julie Lauzon,
Dorte L. Lildballe,
Vanesa López-González,
Johanna Martinezmoles,
Cliff Meldrum,
Ghayda M. Mirzaa,
Chantal F. Morel,
Jenny E.V. Morton,
Louise C. Pyle,
Fabiola Quintero-Rivera,
Julie Richer,
Angela E. Scheuerle,
Bitten Schönewolf-Greulich,
Deborah J. Shears,
Josh Silver,
Amanda C. Smith,
I. Karen Temple,
Jiddeke M. van de Kamp,
Fleur S. van Dijk,
Anthony M. Vandersteen,
Sue M. White,
Elaine H. Zackai,
Ruobing Zou,
Dennis E. Bulman,
Kym M. Boycott,
Matthew A. Lines and
Canada CareRare
Type: Article
| 2016
| Item not available on this server.
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