Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 11
Results: 55
Cover Image, Volume 182A, Number 11, November 2020.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. i, doi. 10.1002/ajmg.a.61500
- Publication type:
- Article
Cover Image, Volume 182A, Number 11, November 2020.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. i, doi. 10.1002/ajmg.a.61500
- Publication type:
- Article
In This Issue.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2478, doi. 10.1002/ajmg.a.61894
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- Article
Bacterial Toxin Enables Mitochondrial Genome Editing.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2476, doi. 10.1002/ajmg.a.61864
- Publication type:
- Article
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2781, doi. 10.1002/ajmg.a.61851
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- Article
Massive parallel sequencing of dried umbilical cord remnants.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2778, doi. 10.1002/ajmg.a.61850
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- Article
Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2773, doi. 10.1002/ajmg.a.61849
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- Article
Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2765, doi. 10.1002/ajmg.a.61848
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- Article
Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2646, doi. 10.1002/ajmg.a.61847
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- Article
A novel splice variant expands the LAMC3‐associated cortical phenotype to frontal only polymicrogyria and adult‐onset epilepsy.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2761, doi. 10.1002/ajmg.a.61846
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- Article
Ophthalmological abnormalities in Down syndrome among Brazilian patients.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2641, doi. 10.1002/ajmg.a.61845
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- Article
The first reported case of Loeys‐Dietz syndrome in a patient with biallelic SMAD3 variants.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2755, doi. 10.1002/ajmg.a.61844
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- Article
Characterization of the Robinow syndrome skeletal phenotype, bone micro‐architecture, and genotype–phenotype correlations with the osteosclerotic form.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2632, doi. 10.1002/ajmg.a.61843
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- Article
Sudden infant death with dysgenesis of the testes syndrome in a non‐Amish infant: A case report.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2751, doi. 10.1002/ajmg.a.61842
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- Article
Candidate genes of oculo‐auriculo‐vertebral spectrum in 22q region: A systematic review.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2624, doi. 10.1002/ajmg.a.61841
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- Article
Langerhans cell histiocytosis in a young patient with Pitt–Hopkins syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2746, doi. 10.1002/ajmg.a.61840
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- Article
Expanding the phenotype of cerebellar‐facial‐dental syndrome: Two siblings with a novel variant in BRF1.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2742, doi. 10.1002/ajmg.a.61839
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7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2737, doi. 10.1002/ajmg.a.61838
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- Article
Use of complementary therapies for chronic pain management in patients with reported Ehlers‐Danlos syndrome or hypermobility spectrum disorders.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2611, doi. 10.1002/ajmg.a.61837
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- Article
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2605, doi. 10.1002/ajmg.a.61836
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Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2731, doi. 10.1002/ajmg.a.61835
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Prevalence rates study of selected isolated non‐Mendelian congenital anomalies in the Hutterite population of Alberta, 1980–2016.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2594, doi. 10.1002/ajmg.a.61834
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Patient with an autosomal‐recessive MBTPS1‐linked phenotype and clinical features of Silver–Russell syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2727, doi. 10.1002/ajmg.a.61833
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Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2722, doi. 10.1002/ajmg.a.61832
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Corrigendum to "Preaxial polydactyly in an individual with Wiedemann‐Steiner syndrome caused by a novel nonsense mutation in KMT2A. Am J Med Genet Part A. 2017;173A:2821–2,825".
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2805, doi. 10.1002/ajmg.a.61831
- Publication type:
- Article
Birth defects that co‐occur with non‐syndromic gastroschisis and omphalocele.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2581, doi. 10.1002/ajmg.a.61830
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A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2570, doi. 10.1002/ajmg.a.61829
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The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2788, doi. 10.1002/ajmg.a.61828
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Multidisciplinary aortopathy clinics: A systematic scoping review of the literature and evaluation of patient experiences from a newly started clinic in Norway.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2552, doi. 10.1002/ajmg.a.61827
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Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2793, doi. 10.1002/ajmg.a.61826
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Natural history of achondroplasia: A retrospective review of longitudinal clinical data.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2540, doi. 10.1002/ajmg.a.61825
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Chromoanasynthesis as a cause of Jacobsen syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2533, doi. 10.1002/ajmg.a.61824
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Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2529, doi. 10.1002/ajmg.a.61822
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Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2800, doi. 10.1002/ajmg.a.61821
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- Article
Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2715, doi. 10.1002/ajmg.a.61817
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Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2709, doi. 10.1002/ajmg.a.61816
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- Article
A cautionary tale of pyridoxine toxicity in cystathionine beta‐synthase deficiency detected by two‐tier newborn screening highlights the need for clear pyridoxine dosing guidelines.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2704, doi. 10.1002/ajmg.a.61815
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- Article
Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2521, doi. 10.1002/ajmg.a.61814
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Screening of a large Rubinstein–Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2508, doi. 10.1002/ajmg.a.61813
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Impact of Costello syndrome on growth patterns.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2797, doi. 10.1002/ajmg.a.61812
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Limb overgrowth associated with a mosaic TSC2 second‐hit in tuberous sclerosis complex.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2803, doi. 10.1002/ajmg.a.61811
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Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2685, doi. 10.1002/ajmg.a.61805
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Bosley–Salih–Alorainy syndrome in patients from India.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2699, doi. 10.1002/ajmg.a.61809
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EVEN‐PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2501, doi. 10.1002/ajmg.a.61808
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Tremor is a major feature of 9p13 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2694, doi. 10.1002/ajmg.a.61807
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Genotype–phenotype correlation of 33 patients with maple syrup urine disease.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2486, doi. 10.1002/ajmg.a.61806
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Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID‐19: The experience of a TSC clinic in Italy.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2479, doi. 10.1002/ajmg.a.61810
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Pre‐ and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2680, doi. 10.1002/ajmg.a.61804
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Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2675, doi. 10.1002/ajmg.a.61803
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Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219Arg in SLC13A5: A case report.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2671, doi. 10.1002/ajmg.a.61802
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- Article