Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 12
Results: 58
Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3916, doi. 10.1002/ajmg.a.62454
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Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux–Lamy syndrome (MPS VI).
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3804, doi. 10.1002/ajmg.a.62453
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The phenotypic spectrum of AMER1‐related osteopathia striata with cranial sclerosis: The first Canadian cohort.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3793, doi. 10.1002/ajmg.a.62452
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Neuroimaging in Kabuki syndrome and another KMT2D‐related disorder.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3770, doi. 10.1002/ajmg.a.62450
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Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3762, doi. 10.1002/ajmg.a.62449
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Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3877, doi. 10.1002/ajmg.a.62448
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Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3784, doi. 10.1002/ajmg.a.62447
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Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3754, doi. 10.1002/ajmg.a.62446
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ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3740, doi. 10.1002/ajmg.a.62445
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The recurrent p.(Pro540Ser) MEN1 genetic variant should be considered nonpathogenic: A case report.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3872, doi. 10.1002/ajmg.a.62444
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Expanding the KIF4A‐associated phenotype.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3728, doi. 10.1002/ajmg.a.62443
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Autophagic defects observed in fibroblasts from a patient with β‐propeller protein‐associated neurodegeneration.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3866, doi. 10.1002/ajmg.a.62442
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PLXNA2 as a candidate gene in patients with intellectual disability.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3859, doi. 10.1002/ajmg.a.62440
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Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3900, doi. 10.1002/ajmg.a.62438
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Auditory and olfactory findings in patients with USH2A‐related retinal degeneration—Findings at baseline from the rate of progression in USH2A‐related retinal degeneration natural history study (RUSH2A).
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3717, doi. 10.1002/ajmg.a.62437
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Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register‐based cohort study.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3706, doi. 10.1002/ajmg.a.62436
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Low‐level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3851, doi. 10.1002/ajmg.a.62433
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Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3694, doi. 10.1002/ajmg.a.62430
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Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3831, doi. 10.1002/ajmg.a.62426
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Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3683, doi. 10.1002/ajmg.a.62429
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Detailed clinical and radiological features of the first patient with Elsahy–Waters syndrome in East Asia.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3909, doi. 10.1002/ajmg.a.62423
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A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3838, doi. 10.1002/ajmg.a.62427
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Facial recognition accuracy in photographs of Thai neonates with Down syndrome among physicians and the Face2Gene application.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3701, doi. 10.1002/ajmg.a.62432
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Targeted therapy with galantamine in a pediatric patient with 15q13.3 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3897, doi. 10.1002/ajmg.a.62425
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Exon skip‐inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3675, doi. 10.1002/ajmg.a.62424
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5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3844, doi. 10.1002/ajmg.a.62428
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Somatic KRAS mutation affecting codon 146 in linear sebaceous nevus syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3825, doi. 10.1002/ajmg.a.62422
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Bronchial angiofibroma in tuberous sclerosis complex: A case report and literature review.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3905, doi. 10.1002/ajmg.a.62421
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Juvenile xanthogranuloma: A possible diagnostic criterion for Neurofibromatosis type 1 in young children.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3895, doi. 10.1002/ajmg.a.62420
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Second instance of co‐occurring 22q11.2 deletion syndrome and Williams syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3821, doi. 10.1002/ajmg.a.62419
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Early developmental impact of sex chromosome trisomies on attention deficit‐hyperactivity disorder symptomology in young children.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3664, doi. 10.1002/ajmg.a.62418
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Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3623, doi. 10.1002/ajmg.a.62410
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Samia Temtamy.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3613, doi. 10.1002/ajmg.a.62409
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Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3814, doi. 10.1002/ajmg.a.62417
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Functional analysis of novel genetic variants of NKX2‐5 associated with nonsyndromic congenital heart disease.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3644, doi. 10.1002/ajmg.a.62413
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Comprehensive investigation of the phenotype of MEF2C‐related disorders in human patients: A systematic review.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3884, doi. 10.1002/ajmg.a.62412
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Personal utility of genomic sequencing for infants with congenital deafness.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3634, doi. 10.1002/ajmg.a.62411
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EPHB4 mutation causes adult and adolescent‐onset primary lymphedema.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3810, doi. 10.1002/ajmg.a.62416
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Corrigendum to "HECW2‐related disorder in four Japanese patients. Am J Med Genet Part A. First published: 28 May 2021 https://doi.org/10.1002/ajmg.a.62363".
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3926, doi. 10.1002/ajmg.a.62414
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Delivering a new diagnosis of Down syndrome: Parent experience.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3615, doi. 10.1002/ajmg.a.62408
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Hoarse voice in children as the presenting feature of ECM1‐related lipoid proteinosis.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3924, doi. 10.1002/ajmg.a.62406
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Craniofacial phenotypes associated with Robinow syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3606, doi. 10.1002/ajmg.a.61986
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Robinow syndrome: Genital analysis, genetic heterogeneity, and associated psychological impact.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3601, doi. 10.1002/ajmg.a.61981
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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3593, doi. 10.1002/ajmg.a.61908
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Extremity anomalies associated with Robinow syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3584, doi. 10.1002/ajmg.a.61884
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Cover Image, Volume 185A, Number 12, December 2021.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. i, doi. 10.1002/ajmg.a.61714
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- Article
Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3576, doi. 10.1002/ajmg.a.61854
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49,XXXXY syndrome: A study of neurological function in this uncommon X and Y chromosomal disorder.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3557, doi. 10.1002/ajmg.a.61742
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Introduction: Comprehensive investigation into an international cohort of boys with 49,XXXXY.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3554, doi. 10.1002/ajmg.a.61739
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Evidence of intrauterine growth restriction and growth hormone deficiency in 49,XXXXY syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3547, doi. 10.1002/ajmg.a.61738
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