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Cover Image, Volume 182A, Number 10, October 2020.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. i, doi. 10.1002/ajmg.a.61500
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- Article
In This Issue.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2206, doi. 10.1002/ajmg.a.61863
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- Article
Canada's Supreme Court Upholds Law to Prevent Genetic Discrimination.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2204, doi. 10.1002/ajmg.a.61862
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- Article
Growth charts for individuals with Coffin‐Siris syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2253, doi. 10.1002/ajmg.a.61823
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- Article
Neurological phenotype of Potocki–Lupski syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2317, doi. 10.1002/ajmg.a.61789
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- Article
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2333, doi. 10.1002/ajmg.a.61793
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- Article
Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2230, doi. 10.1002/ajmg.a.61797
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- Article
Vestibular and audiological findings in the Alport syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2345, doi. 10.1002/ajmg.a.61796
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- Article
Sleep‐disordered breathing and nocturnal hypoventilation in children with the MECP2 duplication syndrome: A case series and review of the literature.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2437, doi. 10.1002/ajmg.a.61790
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- Article
Missense variants in the spectrin repeat domain of DSP are associated with arrhythmogenic cardiomyopathy: A family report and systematic review.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2359, doi. 10.1002/ajmg.a.61799
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Additional individuals with CHD7 variants in Chinese and other southeast Asian patients.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2461, doi. 10.1002/ajmg.a.61798
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- Article
Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2442, doi. 10.1002/ajmg.a.61792
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- Article
3D facial morphometry in Italian patients affected by Aicardi syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2325, doi. 10.1002/ajmg.a.61791
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- Article
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2207, doi. 10.1002/ajmg.a.61795
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- Article
Trichothiodystrophy type 4 in an Indian family.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2226, doi. 10.1002/ajmg.a.61794
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- Article
Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2432, doi. 10.1002/ajmg.a.61788
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- Article
Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2297, doi. 10.1002/ajmg.a.61787
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- Article
Mitochondrial energetic impairment in a patient with late‐onset glutaric acidemia Type 2.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2426, doi. 10.1002/ajmg.a.61786
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- Article
Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2417, doi. 10.1002/ajmg.a.61785
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- Article
A case of rare isolated agnathia and literature review.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2409, doi. 10.1002/ajmg.a.61784
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- Article
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2291, doi. 10.1002/ajmg.a.61783
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- Article
Novel progressive acrodysostosis‐like skeletal dysplasia, cerebellar atrophy, and ichthyosis.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2214, doi. 10.1002/ajmg.a.61782
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Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2403, doi. 10.1002/ajmg.a.61781
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A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin–angiotensin pathway, without renal tubular dysgenesis.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2284, doi. 10.1002/ajmg.a.61780
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- Article
Prenatal pleural effusions and chylothorax: An unusual presentation for CM‐AVM syndrome due to RASA1.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2454, doi. 10.1002/ajmg.a.61779
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- Article
Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2222, doi. 10.1002/ajmg.a.61778
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An additional case of Néstor‐Guillermo progeria syndrome diagnosed in early childhood.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2399, doi. 10.1002/ajmg.a.61777
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- Article
Leukoencephalopathy in Al‐Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2391, doi. 10.1002/ajmg.a.61776
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Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2‐year‐old girl.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2372, doi. 10.1002/ajmg.a.61771
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Behavior and cognitive functioning in Witteveen–Kolk syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2384, doi. 10.1002/ajmg.a.61775
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Immediate and 6‐week after effects of a rehabilitation program for Ehlers–Danlos syndrome hypermobile type patients: A retrospective study.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2263, doi. 10.1002/ajmg.a.61772
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Ocular measurements in fetal alcohol spectrum disorders.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2243, doi. 10.1002/ajmg.a.61759
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Risk Variant for Severe COVID‐19 Inherited from Neanderthals.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2203, doi. 10.1002/ajmg.a.61247
- Publication type:
- Article
Publication schedule for 2020.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2202, doi. 10.1002/ajmg.a.61246
- Publication type:
- Article
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2377, doi. 10.1002/ajmg.a.61773
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Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2272, doi. 10.1002/ajmg.a.61765
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- Article
Knobloch syndrome in a patient from Chile.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2239, doi. 10.1002/ajmg.a.61760
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- Article
Indian child with novel variant in OFD1 gene.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2236, doi. 10.1002/ajmg.a.61768
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- Article
Mutation in CEP135 causing primary microcephaly and subcortical heterotopia.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2450, doi. 10.1002/ajmg.a.61762
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Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2369, doi. 10.1002/ajmg.a.61764
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Table of Contents, Volume 182A, Number 10, October 2020.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2197, doi. 10.1002/ajmg.a.61245
- Publication type:
- Article