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Risk of sudden cardiac death in EXOSC5‐related disease.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2532, doi. 10.1002/ajmg.a.62352
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- Article
Positive response to imatinib in PDGFRB‐related Kosaki overgrowth syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2597, doi. 10.1002/ajmg.a.62264
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- Article
Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2546, doi. 10.1002/ajmg.a.62351
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- Article
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2417, doi. 10.1002/ajmg.a.62347
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- Article
In This Issue.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2293, doi. 10.1002/ajmg.a.61689
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- Article
Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2409, doi. 10.1002/ajmg.a.62337
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- Article
A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2477, doi. 10.1002/ajmg.a.62257
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- Article
Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2445, doi. 10.1002/ajmg.a.62350
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- Article
An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2541, doi. 10.1002/ajmg.a.62349
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- Article
Behavioral and cognitive functioning in individuals with Cantú syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2434, doi. 10.1002/ajmg.a.62348
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- Article
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2526, doi. 10.1002/ajmg.a.62345
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- Article
CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2602, doi. 10.1002/ajmg.a.62343
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- Article
COXPD9 in an individual from Puerto Rico and literature review.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2519, doi. 10.1002/ajmg.a.62344
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- Article
A case of migraine treatment in a patient with a clinical diagnosis of CHARGE syndrome using onabotulinum toxin A.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2514, doi. 10.1002/ajmg.a.62340
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- Article
Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2561, doi. 10.1002/ajmg.a.62338
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- Article
Symptomatic mosaicism for a novel FBN1 splice site variant in a parent causing inherited neonatal Marfan syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2507, doi. 10.1002/ajmg.a.62339
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- Article
Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2496, doi. 10.1002/ajmg.a.62262
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- Article
Novel deep intronic and frameshift mutations causing a TRIP11‐related disorder.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2482, doi. 10.1002/ajmg.a.62260
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- Article
Cardiac abnormalities in girls with Turner syndrome: ECG abnormalities, myocardial strain imaging, and karyotype–phenotype associations.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2399, doi. 10.1002/ajmg.a.62259
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- Article
Simpson‐Golabi‐Behmel syndrome: One family, same mutation, different outcome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2502, doi. 10.1002/ajmg.a.62263
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Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2488, doi. 10.1002/ajmg.a.62261
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- Article
A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2586, doi. 10.1002/ajmg.a.62238
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From cataract to syndrome diagnosis: Revaluation of Warburg‐Micro syndrome Type 1 patients.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2325, doi. 10.1002/ajmg.a.62234
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SATB2‐associated syndrome in adolescents and adults.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2391, doi. 10.1002/ajmg.a.62258
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- Article
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2384, doi. 10.1002/ajmg.a.62254
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- Article
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2315, doi. 10.1002/ajmg.a.62232
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- Article
Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2582, doi. 10.1002/ajmg.a.62233
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- Article
Nonclassic fibrodysplasia ossificans progressiva: A child from Angola with an ACVR1<sup>G328E</sup> variant.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2572, doi. 10.1002/ajmg.a.62253
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- Article
Elevated holo‐transcobalamin in Gaucher disease type II: A case report.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2471, doi. 10.1002/ajmg.a.62252
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Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2374, doi. 10.1002/ajmg.a.62251
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- Article
Heritable disorders of oxygen sensing.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2576, doi. 10.1002/ajmg.a.62250
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- Article
Lower birth weight in newborns with trisomy 18 and esophageal atresia.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2593, doi. 10.1002/ajmg.a.62249
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Death rates in the U.S. due to Leukodystrophies with pediatric forms.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2361, doi. 10.1002/ajmg.a.62248
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Respiratory and otolaryngological disorders in Down syndrome from one center in Brazil.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2356, doi. 10.1002/ajmg.a.62244
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Genomic profiling in neuronal dyneinopathies and updated classifications.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2607, doi. 10.1002/ajmg.a.62243
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Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2345, doi. 10.1002/ajmg.a.62241
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- Article
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2335, doi. 10.1002/ajmg.a.62237
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- Article
Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2464, doi. 10.1002/ajmg.a.62231
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Spread of X‐chromosome inactivation into autosomal regions in patients with unbalanced X‐autosome translocations and its phenotypic effects.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2295, doi. 10.1002/ajmg.a.62228
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Cover Image, Volume 185A, Number 8, August 2021.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. i, doi. 10.1002/ajmg.a.61690
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- Article
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2455, doi. 10.1002/ajmg.a.62230
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Evaluation of sleep‐disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type IVA and VI.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2306, doi. 10.1002/ajmg.a.62229
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Promising Results with Ex Vivo Lentiviral HSPC Gene Therapy in ADA‐SCID.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2291, doi. 10.1002/ajmg.a.61688
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- Article
Table of Contents, Volume 185A, Number 8, August 2021.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2283, doi. 10.1002/ajmg.a.61685
- Publication type:
- Article
Geneticist Workforce Faces Critical Shortage.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2290, doi. 10.1002/ajmg.a.61687
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- Article
Publication schedule for 2021.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2289, doi. 10.1002/ajmg.a.61686
- Publication type:
- Article