American Journal of Medical Genetics Part A 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.Eduardo E. Castilla (1933 –2017): El grande TROESMA*
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: Denise PontesCavalcanti Source Type: research
A novel MYT1L mutation in a patient with severe early ‐onset obesity and intellectual disability
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: Petra
Loid
,
Riikka
M äkitie
,
Alice
Costantini
,
Heli
Viljakainen
,
Minna
Pekkinen
,
Outi
Mäkitie Source Type: research
A recessive truncating variant in thrombospondin ‐1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: Hanadi A.
Abdelrahman
,
Aisha
Al ‐Shamsi
,
Anne
John
,
Jozef
Hertecant
,
Ali
Lootah
,
Bassam R.
Ali
,
Lihadh
Al‐Gazali Source Type: research
A recognizable phenotype related to 19p13.12 microdeletion
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: Laiara Cristinade Souza
,
Il ária CristinaSgardioli
,
Vera LúciaGil‐da‐Silva‐Lopes
,
Társis PaivaVieira Source Type: research
Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: Jennifer
Roberts
,
Dmitry
Lyalin
,
Norwood
Tosatto
,
Pratibha
Rana
,
Hiba
Fadoul
,
Holly
Welsh
,
Lei
Zhang
,
Linda
Cooley
,
Elena
Repnikova Source Type: research
Health supervision for people with Bloom syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: Christopher
Cunniff
,
Amir Reza
Djavid
,
Steven
Carrubba
,
Bernard
Cohen
,
Nathan A.
Ellis
,
Carolyn Fein
Levy
,
Stacy
Jeong
,
Howard M.
Lederman
,
Maria
Vogiatzi
,
Michael F.
Walsh
,
Ann Graham
Zauber Source Type: research
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: Ganka
Douglas
,
Megan T.
Cho
,
Aida
Telegrafi
,
Susan
Winter
,
Jason
Carmichael
,
Elaine H.
Zackai
,
Matthew A.
Deardorff
,
Margaret
Harr
,
Linford
Williams
,
Apostolos
Psychogios
,
Angelika L.
Erwin
,
Theresa
G Source Type: research
A case of severe TBCE ‐negative hypoparathyroidism‐retardation‐dysmorphism syndrome: Case report and literature review
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: Anna
Ryabets ‐Lienhard
,
Satja
Issaranggoon na Ayuthaya
,
John M.
Graham
,
Pisit
Pitukcheewanont Source Type: research
A 69 ‐year‐old woman with Coffin–Siris syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: LauraM äättänen
,
MarjaHietala
,
JaakkoIgnatius
,
MariaArvio Source Type: research
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: DimitriRenard
,
GuillaumeTaieb
,
MatteoGaribaldi
,
AndreMaues De Paula
,
RafaelleBernard
,
NadiraLagha
,
GaelCristofari
,
CatherineVovan
,
Charl èneChaix
,
NicolasLévy
,
PhilippeKhau Van Kien
,
SabrinaSacconi Source Type: research
De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: AmandaRogers
,
PaulGolumbek
,
ElenaCellini
,
ViolaDoccini
,
RenzoGuerrini
,
CarinaWallgren ‐Pettersson
,
Ann‐CharlotteThuresson
,
Christina A.Gurnett Source Type: research
Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: Erica
Schindewolf
,
Nahla
Khalek
,
Mark P.
Johnson
,
Juliana
Gebb
,
Beverly
Coleman
,
Terrence Blaine
Crowley
,
Elaine H.
Zackai
,
Donna M.
McDonald ‐McGinn
,
Julie S.
Moldenhauer Source Type: research
Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: ArunkanthAnkala
,
NierajJain
,
BakerHubbard
,
John J.Alexander
,
Suma P.Shankar Source Type: research
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: Mark D.Levin
,
Sulagna C.Saitta
,
Karen W.Gripp
,
Tara L.Wenger
,
JayaGanesh
,
Jennifer M.Kalish
,
Michael R.Epstein
,
RosemarieSmith
,
Richard J.Czosek
,
Stephanie M.Ware
,
PaulaGoldenberg
,
AngelaMyers
,
Kathryn C.Ch Source Type: research
Reassignment of HMX1 indicates copy number variation within 4p16.1 may be an alternative cause of oculoauricular phenotypes
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: John C.K.
Barber Source Type: research
