PMC Articles for MedGen (Select 382704) - PMC

Select item 55018731.

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Cara M. Skraban, Constance F. Wells, Preetha Markose, Megan T. Cho, Addie I. Nesbitt, P.Y. Billie Au, Amber Begtrup, John A. Bernat, Lynne M. Bird, Kajia Cao, Arjan P.M. de Brouwer, Elizabeth H. Denenberg, Ganka Douglas, Kristin M. Gibson, Katheryn Grand, Alice Goldenberg, A. Micheil Innes, Jane Juusola, Marlies Kempers, Esther Kinning, David M. Markie, Martina M. Owens, Katelyn Payne, Richard Person, Rolph Pfundt, Amber Stocco, Claire L.S. Turner, Nienke E. Verbeek, Laurence E. Walsh, Taylor C. Warner, Patricia G. Wheeler, Dagmar Wieczorek, Alisha B. Wilkens, Evelien Zonneveld-Huijssoon, Deciphering Developmental Disorders Study, Tjitske Kleefstra, Stephen P. Robertson, Avni Santani, Koen L.I. van Gassen, Matthew A. Deardorff

Am J Hum Genet. 2017 Jul 6; 101(1): 139–148. Published online 2017 Jul 6. doi: 10.1016/j.ajhg.2017.06.002

PMCID:: PMC5501873

Article PDF–2.0M

Select item 28917302.

Findings From aCGH in Patients With Congenital Diaphragmatic Hernia (CDH): A Possible Locus for Fryns Syndrome

S. Kantarci, D. Casavant, C. Prada, M. Russell, J. Byrne, L. Wilkins Haug, R. Jennings, S. Manning, T.K. Boyd, J.P. Fryns, L.B. Holmes, P.K. Donahoe, C. Lee, V. Kimonis, B.R. Pober

Am J Med Genet A. Author manuscript; available in PMC 2010 Jun 24.

Published in final edited form as: Am J Med Genet A. 2006 Jan 1; 140(1): 17–23. doi: 10.1002/ajmg.a.31025

Correction in:: volume 140 on page 1031

PMCID:: PMC2891730

Article PDF–787K

Select item 19507983.

Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

Elena Boland, Jill Clayton-Smith, Victoria G. Woo, Shane McKee, Forbes D. C. Manson, Livija Medne, Elaine Zackai, Eric A. Swanson, David Fitzpatrick, Kathleen J. Millen, Elliott H. Sherr, William B. Dobyns, Graeme C. M. Black

Am J Hum Genet. 2007 Aug; 81(2): 292–303. Published online 2007 Jun 13. doi: 10.1086/519999

PMCID:: PMC1950798

Article PDF–499K

Select item 2871684.

Human nuclear NAD+ ADP-ribosyltransferase: localization of the gene on chromosome 1q41-q42 and expression of an active human enzyme in Escherichia coli.

H Herzog, B U Zabel, R Schneider, B Auer, M Hirsch-Kauffmann, M Schweiger

Proc Natl Acad Sci U S A. 1989 May; 86(10): 3514–3518. doi: 10.1073/pnas.86.10.3514

PMCID:: PMC287168

Summary Page Browse PDF–1.2M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 4

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity