American Journal of Medical Genetics Part A American Journal of Medical Genetics Part A RSS feedThis 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.

In reply to “Short‐rib syndrome Beemer‐Langer type, a short history”
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 25, 2018 Category: Genetics & Stem Cells Authors: Denise P.Cavalcanti Source Type: research

Cover Image, Volume 176A, Number 7, July 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page i-i, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Authors: Irene J.Chang , AngelaSun , Maryse L.Bouchard , Shawn E.Kamps , SusanHale , StephenDone , Michael J.Goldberg , Ian A.Glass Source Type: research

Table of Contents, Volume 176A, Number 7, July 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1537-1540, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Source Type: research

In This Issue
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1544-1545, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Source Type: research

Molecular Signature at Birth Associated With Genetic Burden for Autism
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1543-1544, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Source Type: research

Hyperactive SHP2 Mutants Impair Chondrocyte Differentiation During Endochondral Bone Growth in Noonan Syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1546-1546, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Source Type: research

Publication schedule for 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1541-1541, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Source Type: research

Introducing in AJMG Part A: Case reports in diverse populations
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1547-1548, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Authors: Katta M.Girisha , AmbroiseWonkam , MaximilianMuenke Source Type: research

Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1688-1691, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Authors: Kristin D.Kernohan , TailaHartley , SergeyNaumenko , Christine M.Armour , Gail E.Graham , Sarah M.Nikkel , MatthewLines , Michael T.Geraghty , JulieRicher , WendyMears , Kym M.Boycott , David A.Dyment Source Type: research

Autosomal ‐dominant biventricular arrhythmogenic cardiomyopathy in a large family with a novel in‐frame DSP nonsense mutation
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1622-1626, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Authors: Sajya M.Singh , Susan A.Casey , Allison A.Berg , Raed H.Abdelhadi , William T.Katsiyiannis , Mosi K.Bennett , ShannonMackey ‐Bojack , Emily R.Duncanson , Jay D.Sengupta Source Type: research

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41 ‐q42 deletion phenotype
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1549-1558, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Authors: ChrisBalak , NewellBelnap , KeriRamsey , ShelaghJoss , KoenDevriendt , MarcusNaymik , WayneJepsen , Ashley L.Siniard , SzabolcsSzelinger , Mary E.Parker , RyanRichholt , TylerIzatt , MadisonLaFleur , PaniehTerraf , Source Type: research

Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1675-1679, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Authors: Irene J.Chang , AngelaSun , Maryse L.Bouchard , Shawn E.Kamps , SusanHale , StephenDone , Michael J.Goldberg , Ian A.Glass Source Type: research

Ocular albinism with infertility and late ‐onset sensorineural hearing loss
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1587-1593, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Authors: Bj ørn K.Fabian‐Jessing , Else MarieVestergaard , Astrid S.Plomp , Arthur A.Bergen , Wouter A.Dreschler , MortenDuno , Beata S.Winiarska , LindaNeumann , MichaelGaihede , HenrikVorum , Michael B.Petersen Source Type: research

Further delineation of Aym é‐Gripp syndrome and use of automated facial analysis tool
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1648-1656, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Authors: Shivarajan M.Amudhavalli , RandiHanson , BradAngle , KellyBontempo , Karen W.Gripp Source Type: research

Cover Image, Volume 176A, Number 6, June 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page i-i, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 30, 2018 Category: Genetics & Stem Cells Authors: Rachel A.Ungar , NeelamGiri , MarylandPao , Payal P.Khincha , WeiyinZhou , Blanche P.Alter , Sharon A.Savage Source Type: research