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.Systemic lupus erythematosus in a patient with Noonan syndrome ‐like disorder with loose anagen hair 1: More than a chance association
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 8, 2018 Category: Genetics & Stem Cells Authors: TomokoUehara
,
NaokiHosogaya
,
NobutakeMatsuo
,
KenjiroKosaki Source Type: research
Timothy syndrome ‐like condition with syndactyly but without prolongation of the QT interval
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 8, 2018 Category: Genetics & Stem Cells Authors: RikaKosaki
,
HiroshiOno
,
HiroshiTerashima
,
KenjiroKosaki Source Type: research
Novel PLS3 variants in X ‐linked osteoporosis: Exploring bone material properties
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 8, 2018 Category: Genetics & Stem Cells Authors: MeenaBalasubramanian
,
NadjaFratzl ‐Zelman
,
RoryO'Sullivan
,
MaryBull
,
NicolaFA Peel
,
Rebecca CPollitt
,
RebeccaJones
,
ElizabethMilne
,
KathSmith
,
PaulRoschger
,
KlausKlaushofer
,
Nicholas JBishop Source Type: research
Acute lymphoblastic leukemia in a male with Simpson –Golabi–Behmel 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 - May 8, 2018 Category: Genetics & Stem Cells Authors: MariMinatogawa
,
FuminoriIwasaki
,
TakayukiYokoi
,
JunichiNagai
,
SatoruSakazume
,
HiroakiGoto
,
KenjiKurosawa Source Type: research
KIF16B is a candidate gene for a novel autosomal ‐recessive intellectual disability 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 - May 8, 2018 Category: Genetics & Stem Cells Authors: SaudAlsahli
,
Stefan T.Arold
,
AhmedAlfares
,
BaderAlhaddad
,
MohammedAl Balwi
,
Erik ‐JanKamsteeg
,
WaleedAl‐Twaijri
,
MajidAlfadhel Source Type: research
A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 28, 2018 Category: Genetics & Stem Cells Authors: Shinn YoungKim
,
Hyun ‐SunKo
,
NamshinKim
,
Seon‐HeeYim
,
Seung‐HyunJung
,
JiwoongKim
,
Myung‐DukLee
,
Yeun‐JunChung Source Type: research
A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents —the first cases of gonadal mosaicism in CFC?
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 28, 2018 Category: Genetics & Stem Cells Authors: SarahGeoghegan
,
GrahamKing
,
JenniferHenchliffe
,
Simon C.Ramsden
,
Raymond J.Barry
,
Andrew J.Green
,
Susan M.O'Connell Source Type: research
Atypical presentations associated with non ‐polyalanine repeat PHOX2B mutations
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 28, 2018 Category: Genetics & Stem Cells Authors: UmakanthKatwa
,
Alissa M.D'Gama
,
Anita E.Qualls
,
Lucas M.Donovan
,
JodyHeffernan
,
JiahaiShi
,
Pankaj B.Agrawal Source Type: research
Familial autosomal dominant severe ankyloglossia with tooth abnormalities
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 28, 2018 Category: Genetics & Stem Cells Authors: Ana ëlleLenormand
,
RomanKhonsari
,
PierreCorre
,
Jean PhilippePerrin
,
CécileBoscher
,
MathildeNizon
,
OlivierPichon
,
AlbertDavid
,
CedricLe Caignec
,
HeliosBertin
,
BertrandIsidor Source Type: research
Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 28, 2018 Category: Genetics & Stem Cells Authors: Chlo éQuélin
,
PhilippeLoget
,
LucileBoutaud
,
NadiaElkhartoufi
,
JoelleMilon
,
SylvieOdent
,
MélanieFradin
,
FlorenceDemurger
,
LaurentPasquier
,
SophieThomas
,
TaniaAttié‐Bitach Source Type: research
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 28, 2018 Category: Genetics & Stem Cells Authors: DavidOwen
,
AnaT öpf
,
VeeramaniPreethish‐Kumar
,
Paulo JoséLorenzoni
,
BasVroling
,
Rosana HerminiaScola
,
ElzaDias‐Tosta
,
ArgemiroGeraldo
,
KiranPolavarapu
,
SaraswatiNashi
,
DanielCox
,
TeresinhaEvangelista
,
Source Type: research
Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 28, 2018 Category: Genetics & Stem Cells Authors: SharolinBoban
,
HelenLeonard
,
KingsleyWong
,
AndrewWilson
,
JennyDowns Source Type: research
A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 28, 2018 Category: Genetics & Stem Cells Authors: Shinn YoungKim
,
Hyun ‐SunKo
,
NamshinKim
,
Seon‐HeeYim
,
Seung‐HyunJung
,
JiwoongKim
,
Myung‐DukLee
,
Yeun‐JunChung Source Type: research
A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents —the first cases of gonadal mosaicism in CFC?
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 28, 2018 Category: Genetics & Stem Cells Authors: SarahGeoghegan
,
GrahamKing
,
JenniferHenchliffe
,
Simon C.Ramsden
,
Raymond J.Barry
,
Andrew J.Green
,
Susan M.O'Connell Source Type: research
Atypical presentations associated with non ‐polyalanine repeat PHOX2B mutations
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 28, 2018 Category: Genetics & Stem Cells Authors: UmakanthKatwa
,
Alissa M.D'Gama
,
Anita E.Qualls
,
Lucas M.Donovan
,
JodyHeffernan
,
JiahaiShi
,
Pankaj B.Agrawal Source Type: research
