american journal of medical genetics part a

Indexings	ncbi ulakbim sci
Short Name	am j med genet a
Abbreviated Name	am j med genet a
ISSN	1552-4833
Aim and Scope
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Publications Per Year

Recent Articles (13 total)

2020

Airway abnormalities in very early treated infantile-onset Pompe disease: A large-scale survey by flexible bronchoscopy.

Yang, Chia-Feng;Niu, Dau-Ming;Tai, Shyh-Kuan;Wang, Ting-Hao;Su, Hsiao-Ting;Huang, Ling-Yi;Soong, Wen-Jue;

275 views DOI Abstract

2012

A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation.

Velinov, Milen;Ahmad, Ausaf;Brown-Kipphut, Brigette;Shafiq, Mustafa;Blau, Jonathan;Cooma, Ruby;Roth, Philip;Iqbal, M Anwar;

Vol. 158A , No. 12 , pp. 3201-6

266 views DOI Abstract

2011

Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis.

Kędzierska, Karolina;Kwiatkowski, Sebastian;Torbé, Andrzej;Marchelek-Myśliwiec, Małgorzata;Marcinkiewicz, Oliwia;Bobrek-Lesiakowska, Katarzyna;Gołembiewska, Edyta;Kwiatkowska, Ewa;Rzepka, Rafał;Ciechanowski, Kazimierz;Czajka, Ryszard;Santer, René;

Vol. 155A , No. 8 , pp. 2028-30

266 views DOI

2016

Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?

Tüysüz, Beyhan;Ercan-Sencicek, Adife Gülhan;Canpolat, Nur;Koparır, Asuman;Yılmaz, Saliha;Kılıçaslan, Işın;Gülez, Burcu;Bilguvar, Kaya;Günel, Murat;

Vol. 170A , No. 5 , pp. 1187-95

259 views DOI Abstract

2017

Descriptive study of the complete blood count in newborn infants with Down syndrome.

Martínez-Macías, Francisco Javier;Bobadilla-Morales, Lucina;González-Cruz, Janet;Quiles-Corona, Moisés;Corona-Rivera, Alfredo;Peña-Padilla, Christian;Orozco-Vela, Mireya;Silva-Cruz, Rocío;Velarde-Rivera, Fernando;Corona-Rivera, Jorge Román;

Vol. 173 , No. 4 , pp. 897-904

255 views DOI Abstract

2020

Natural history of achondroplasia: A retrospective review of longitudinal clinical data.

Okenfuss, Ericka;Moghaddam, Billur;Avins, Andrew L;

248 views DOI Abstract

2020

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.

Assoum, Mirna;Bruel, Ange-Line;Crenshaw, Melissa L;Delanne, Julian;Wentzensen, Ingrid M;McWalter, Kirsty;Dent, Karin M;Vitobello, Antonio;Kuentz, Paul;Thevenon, Julien;Duffourd, Yannis;Thauvin-Robinet, Christel;Faivre, Laurence;

242 views DOI Abstract

2005

Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.

Caldeira Araújo, H;Smit, W;Verhoeven, N M;Salomons, G S;Silva, S;Vasconcelos, R;Tomás, H;Tavares de Almeida, I;Jakobs, C;Duran, M;

Vol. 133A , No. 2 , pp. 122-7

232 views Abstract

2019

Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.

Darras, Natasha;Ha, Thoa K;Rego, Shannon;Martin, Pierre-Marie;Barroso, Eva;Slavotinek, Anne M;Cilio, Maria R;

230 views DOI Abstract

2020

Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature.