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Involvement of the zebrafish trrap gene in craniofacial development.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-03123-z
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- Publication type:
- Article
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 75, doi. 10.1159/000517977
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- Publication type:
- Article
The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up.
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- BMC Pulmonary Medicine, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12890-024-03290-5
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- Article
Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1364
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- Publication type:
- Article
Medical genetics and genomic medicine in Japan.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 166, doi. 10.1002/ajmg.c.31702
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- Publication type:
- Article
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63614
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- Publication type:
- Article
The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1184, doi. 10.1002/ajmg.a.62638
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- Article
A patient with compound heterozygosity of SMPD4: Another example of utility of exome‐based copy number analysis in autosomal recessive disorders.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 613, doi. 10.1002/ajmg.a.62535
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- Article
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 446, doi. 10.1002/ajmg.a.62533
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- Publication type:
- Article
Clinical spectrum of individuals with de novo EBF3 variants or deletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2913, doi. 10.1002/ajmg.a.62369
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- Publication type:
- Article
Recurrent NFIA K125E substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2084, doi. 10.1002/ajmg.a.62226
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- Article
Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1836, doi. 10.1002/ajmg.a.62152
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- Article
Fork‐shaped mandibular incisors as a novel phenotype of LRP5‐associated disorder.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1544, doi. 10.1002/ajmg.a.62132
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- Article
Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1113, doi. 10.1002/ajmg.a.62084
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- Article
Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1182, doi. 10.1002/ajmg.a.62054
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- Publication type:
- Article
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37‐PACS1‐PACS2 axis.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 884, doi. 10.1002/ajmg.a.62020
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- Publication type:
- Article
Learning disability and myoclonic epilepsy associated with apparently synonymous but splice‐disrupting JMJD1C variant that led to 21 bp deletion of the transcript.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3064, doi. 10.1002/ajmg.a.61892
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- Article
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
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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- Article
Consecutive medical exome analysis at a tertiary center: Diagnostic and health‐economic outcomes.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1601, doi. 10.1002/ajmg.a.61589
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- Article
Shortfall of exome analysis for diagnosis of Shwachman‐Diamond syndrome: Mismapping due to the pseudogene SBDSP1.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1631, doi. 10.1002/ajmg.a.61598
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- Article
IFT172 as the 19th gene causative of oral‐facial‐digital syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2510, doi. 10.1002/ajmg.a.61373
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- Article
CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2506, doi. 10.1002/ajmg.a.61356
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- Article
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1628, doi. 10.1002/ajmg.a.61261
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- Article
Noninvasive diagnosis of TRIT1‐related mitochondrial disorder by measuring i<sup>6</sup>A37 and ms<sup>2</sup>i<sup>6</sup>A37 modifications in tRNAs from blood and urine samples.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1609, doi. 10.1002/ajmg.a.61211
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- Article
Cover Image, Volume 179A, Number 6, June 2019.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. i, doi. 10.1002/ajmg.a.61156
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- Article
SATB2‐associated syndrome in patients from Japan: Linguistic profiles.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 896, doi. 10.1002/ajmg.a.61114
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- Article
CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 659, doi. 10.1002/ajmg.a.61068
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- Article
Schuurs‐Hoeijmakers syndrome in two patients from Japan.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 341, doi. 10.1002/ajmg.a.9
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- Article
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2777, doi. 10.1002/ajmg.a.40525
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- Article
Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2466, doi. 10.1002/ajmg.a.40354
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- Article
Systemic lupus erythematosus in a patient with Noonan syndrome‐like disorder with loose anagen hair 1: More than a chance association.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1662, doi. 10.1002/ajmg.a.38834
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- Article
Three patients with DeSanto‐Shinawi syndrome: Further phenotypic delineation.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1335, doi. 10.1002/ajmg.a.38703
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- Article
Growth pattern of Rahman syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 712, doi. 10.1002/ajmg.a.38616
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- Article
Biallelic mutations in <italic>NALCN</italic>: Expanding the genotypic and phenotypic spectra of IHPRF1.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 431, doi. 10.1002/ajmg.a.38543
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- Article
Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2831, doi. 10.1002/ajmg.a.38363
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- Article
Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2821, doi. 10.1002/ajmg.a.38405
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- Article
Expansion of the phenotype of Kosaki overgrowth syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2422, doi. 10.1002/ajmg.a.38310
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- Article
Cover Image, Volume 173A, Number 6, June 2017.
- Published in:
- 2017
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- Publication type:
- Other
Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1631, doi. 10.1002/ajmg.a.38126
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- Article
Cover Image, Volume 173A, Number 5, May 2017.
- Published in:
- 2017
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- Publication type:
- Other
Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1353, doi. 10.1002/ajmg.a.38167
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- Publication type:
- Article
Hirschsprung Disease as a Yet Undescribed Phenotype in a Patient with ARID1B Mutation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3249, doi. 10.1002/ajmg.a.37861
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- Article
Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2587, doi. 10.1002/ajmg.a.37761
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- Article
Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 852, doi. 10.1002/ajmg.a.37526
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- Publication type:
- Article
Rhegmatogenous Retinal Detachment in Musculocontractural Ehlers–Danlos Syndrome Caused by Biallelic Loss-of-Function Variants of Gene for Dermatan Sulfate Epimerase.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 5, p. 1728, doi. 10.3390/jcm12051728
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- Article
Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant.
- Published in:
- Congenital Anomalies, 2022, v. 62, n. 2, p. 82, doi. 10.1111/cga.12454
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- Article
Noonan syndrome‐like phenotype in a patient with heterozygous ERF truncating variant.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 6, p. 226, doi. 10.1111/cga.12435
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- Article
Role of chimeric transcript formation in the pathogenesis of birth defects.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 3, p. 76, doi. 10.1111/cga.12400
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- Article
Heterozygous nonsense variant of CHD8 in a patient with forme‐fruste Marfan syndrome and intellectual disability.
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- Congenital Anomalies, 2021, v. 61, n. 1, p. 30, doi. 10.1111/cga.12393
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- Publication type:
- Article