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.A neurodegenerative mitochondrial disease phenotype due to biallelic loss ‐of‐function variants in PNPLA8 encoding calcium‐independent phospholipase A2γ
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1232-1237, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: AnjuShukla
,
Russell P.Saneto
,
MalavikaHebbar
,
GhaydaMirzaa
,
Katta M.Girisha Source Type: research
Homozygous DMRT2 variant associates with severe rib malformations in a newborn
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1216-1221, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: ArjanBouman
,
QuintenWaisfisz
,
JopAdmiraal
,
Moniekvan de Loo
,
Rick R.van Rijn
,
MichaDimitra
,
Roelof ‐JanOostra
,
Inge B.Mathijssen Source Type: research
Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1055-1090, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: Amy M.Padula
,
WeiYang
,
KathleenSchultz
,
FredLurmann
,
S. KatharineHammond
,
Gary M.Shaw Source Type: research
Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution ‐based detailed clinical observation
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1137-1144, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: SoichiShibuya
,
YuichiroMiyake
,
ShigeruTakamizawa
,
ErikoNishi
,
KatsumiYoshizawa
,
TomokoHatata
,
KazukiYoshizawa
,
KenyaFujita
,
MasahikoNoguchi
,
JunOhata
,
TakehikoHiroma
,
TomohikoNakamura
,
TomokiKosho Source Type: research
Low ‐level expression of EPG5 leads to an attenuated Vici syndrome phenotype
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1207-1211, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: Megan A.Waldrop
,
FeleciaGumienny
,
DanielBoue
,
Emilyde los Reyes
,
RichardShell
,
Robert B.Weiss
,
Kevin M.Flanigan Source Type: research
Williams –Beuren syndrome in diverse populations
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1128-1136, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: PaulKruszka
,
Antonio R.Porras
,
Deise Helenade Souza
,
Ang élicaMoresco
,
VictoriaHuckstadt
,
Ashleigh D.Gill
,
Alec P.Boyle
,
TommyHu
,
Yonit A.Addissie
,
Gary T. K.Mok
,
CedrikTekendo‐Ngongang
,
KarenFieggen
,
Elo Source Type: research
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1200-1206, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: Siddaramappa JagdishPatil
,
AneekDas Bhowmik
,
VenkatramanBhat
,
VenugopalSatidevi Vineeth
,
RashmiVasudevamurthy
,
AshwinDalal Source Type: research
Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type ‐2
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1190-1194, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: MonaEl ‐Ruby
,
AlaaEl‐Din Fayez
,
Sara H.El‐Dessouky
,
Mona S.Aglan
,
InasMazen
,
NoraIsmail
,
Hanan H.Afifi
,
Maha M.Eid
,
Mostafa I.Mostafa
,
Mennat I.Mehrez
,
YasminKhalil
,
Maha S.Zaki
,
Khaled R.Gaber
,
Mo Source Type: research
Bohring ‐Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1249-1252, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: EmmaBedoukian
,
DeborahCopenheaver
,
SherriBale
,
MatthewDeardorff Source Type: research
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1091-1098, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: CarolineAlby
,
LucileBoutaud
,
BettinaBessi ères
,
ValérieSerre
,
MarleneRio
,
ValerieCormier‐Daire
,
Judithde Oliveira
,
AmaleIchkou
,
LindaMouthon
,
Christopher T.Gordon
,
MaryseBonnière
,
CharlotteMechler
,
Pat Source Type: research
Expanding the molecular basis and phenotypic spectrum of ZDHHC9 ‐associated X‐linked intellectual disability
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1238-1244, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: SchaidaSchirwani
,
EmmaWakeling
,
KathSmith
,
,
MeenaBalasubramanian Source Type: research
Philtrum length and intercommissural distance measurements at mixed dentition period
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1145-1149, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: MostafaMostafa
,
NehalHassib
,
InasSayed
,
AmanyNeamat
,
MagdaRamzy
,
TarekEl ‐Badry
,
HishamElGabry
,
HaidySalem
,
NadaOmar
,
AmiraIsmail
,
YousraIbrahim
,
AmrShebaita
,
AhmedAllam
,
MagdyMostafa Source Type: research
Lethal persistent pulmonary hypertension of the newborn in Bohring –Opitz syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1245-1248, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: MasayaKibe
,
SatoshiIbara
,
HidehitoInagaki
,
TakemaKato
,
HirokiKurahashi
,
ToshiroIkeda Source Type: research
Worries and needs of adults and parents of adults with neurofibromatosis type 1
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1150-1160, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: Andre B.Rietman
,
Hannekevan Helden
,
Pauline H.Both
,
WalterTaal
,
Jeroen S.Legerstee
,
AnneLoesvan Staa
,
Henriette A.Moll
,
RianneOostenbrink
,
Agnies M.van Eeghen Source Type: research
Two novel cases expanding the phenotype of SETD2 ‐related overgrowth syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1212-1215, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: Maartje C.van Rij
,
Iris H. I. M.Hollink
,
Paulien AnnaTerhal
,
Sarina G.Kant
,
ClaudiaRuivenkamp
,
Arievan Haeringen
,
J. AnnekeKievit
,
Martine J.van Belzen Source Type: research
