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american journal of medical genetics part a

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Indexings
ncbi ulakbim sci
Short Name am j med genet a
Abbreviated Name am j med genet a
ISSN 1552-4833
Aim and Scope
URL
Author Instructions

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;
277 views DOI Abstract
2011
Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis.
KΔ™dzierska, Karolina;Kwiatkowski, Sebastian;TorbΓ©, Andrzej;Marchelek-MyΕ›liwiec, MaΕ‚gorzata;Marcinkiewicz, Oliwia;Bobrek-Lesiakowska, Katarzyna;GoΕ‚embiewska, Edyta;Kwiatkowska, Ewa;Rzepka, RafaΕ‚;Ciechanowski, Kazimierz;Czajka, Ryszard;Santer, RenΓ©;
Vol. 155A , No. 8 , pp. 2028-30
267 views DOI
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
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.
MartΓ­nez-MacΓ­as, Francisco Javier;Bobadilla-Morales, Lucina;GonzΓ‘lez-Cruz, Janet;Quiles-Corona, MoisΓ©s;Corona-Rivera, Alfredo;PeΓ±a-Padilla, Christian;Orozco-Vela, Mireya;Silva-Cruz, RocΓ­o;Velarde-Rivera, Fernando;Corona-Rivera, Jorge RomΓ‘n;
Vol. 173 , No. 4 , pp. 897-904
256 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 AraΓΊjo, H;Smit, W;Verhoeven, N M;Salomons, G S;Silva, S;Vasconcelos, R;TomΓ‘s, H;Tavares de Almeida, I;Jakobs, C;Duran, M;
Vol. 133A , No. 2 , pp. 122-7
234 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.
Santoro, Stephanie L;Chicoine, Brian;Jasien, Joan M;Kim, Judy Lu;Stephens, Mary;Bulova, Peter;Capone, George;
222 views DOI Abstract
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