american journal of medical genetics part a

american journal of medical genetics part a

Indexed In	ncbi ulakbim MEP: 0.787 Ödeme: 3935 Yılı: 2020 sci
Short Name	am j med genet a
Abbreviated Name	am j med genet a
Publications/Year
ISSN	1552-4833
Aim and Scope
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Author Instructions

Top Clicked Bibliographies from Search

2020 Natural history of achondroplasia: A retrospective review of longitudinal clinical data. Clicks: 420

2011 Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis. Clicks: 264

2020 Airway abnormalities in very early treated infantile-onset Pompe disease: A large-scale survey by flexible bronchoscopy. Clicks: 263

2016 Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence? Clicks: 259

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. Clicks: 249

2017 Descriptive study of the complete blood count in newborn infants with Down syndrome. Clicks: 247

2020 Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature. Clicks: 227

2005 Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. Clicks: 221

2020 Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature. Clicks: 221

2019 Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B. Clicks: 217