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HIST1H1E heterozygous protein‐truncating variants cause a r..:

Burkardt, Deepika D'Cunha ; Zachariou, Anna ; Loveday, Chey...
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 2049-2055 , 2019

Link: https://doi.org/10.1002/ajmg.a.61321

RT Journal
T1 <Title>HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals</Title>

UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.61321&Exemplar=1&LAN=DE
				
A1 Burkardt, Deepika D'Cunha
A1 Zachariou, Anna
A1 Loveday, Chey
A1 Allen, Clare L.
A1 Amor, David J.
A1 Ardissone, Anna
A1 Banka, Siddharth
A1 Bourgois, Alexia
A1 Coubes, Christine
A1 Cytrynbaum, Cheryl
A1 Faivre, Laurence
A1 Marion, Gerard
A1 Horton, Rachel
A1 Kotzot, Dieter
A1 Lay‐Son, Guillermo
A1 Lees, Melissa
A1 Low, Karen
A1 Luk, Ho‐Ming
A1 Mark, Paul
A1 McConkie‐Rosell, Allyn
A1 McDonald, Marie
A1 Pappas, John
A1 Phillipe, Christophe
A1 Shears, Deborah
A1 Skotko, Brian
A1 Stewart, Fiona
A1 Stewart, Helen
A1 Temple, I Karen.
A1 Mau‐Them, Frederic T.
A1 Verdugo, Ricardo A.
PB Wiley
YR 2019
SN 1552-4825
SN 1552-4833
JF American Journal of Medical Genetics Part A
VO 179
IS 10
SP 2049
OP 2055
LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.61321
DO https://doi.org/10.1002/ajmg.a.61321
SF ELIB - SuUB Bremen

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