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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.
- Published in:
- BMC Pulmonary Medicine, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12890-024-03290-5
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- Publication type:
- Article
Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report.
- Published in:
- 2022
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- Publication type:
- journal 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
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
Identification of a novel splice‐site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63575
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- Publication type:
- Article
Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defect.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2472, doi. 10.1002/ajmg.a.62777
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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.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1184, doi. 10.1002/ajmg.a.62638
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- Publication type:
- Article
A patient with compound heterozygosity of SMPD4: Another example of utility of exome‐based copy number analysis in autosomal recessive disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 613, doi. 10.1002/ajmg.a.62535
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- Publication type:
- Article
Vanishing basal ganglia in ATP1A3‐related polymicrogyria.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 665, doi. 10.1002/ajmg.a.62531
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- Publication type:
- Article
Direct visualization of the evolution of limb amputation in amnion rupture sequence in an extremely preterm infant born at 22 weeks.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2821, doi. 10.1002/ajmg.a.62137
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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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- Publication type:
- 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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- Publication type:
- Article
Fork‐shaped mandibular incisors as a novel phenotype of LRP5‐associated disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1544, doi. 10.1002/ajmg.a.62132
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- Publication type:
- 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
Learning disability and myoclonic epilepsy associated with apparently synonymous but splice‐disrupting JMJD1C variant that led to 21 bp deletion of the transcript.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3064, doi. 10.1002/ajmg.a.61892
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- Publication type:
- Article
Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2709, doi. 10.1002/ajmg.a.61816
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- Publication type:
- Article
Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2529, doi. 10.1002/ajmg.a.61822
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2506, doi. 10.1002/ajmg.a.61356
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- Publication type:
- 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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- Publication type:
- Article
SATB2‐associated syndrome in patients from Japan: Linguistic profiles.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 896, doi. 10.1002/ajmg.a.61114
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- Publication type:
- Article
Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis.
- Published in:
- Child's Nervous System, 2022, v. 38, n. 3, p. 659, doi. 10.1007/s00381-021-05232-6
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- Publication type:
- Article
Café-au-lait Spots and Cleft Palate: Not a Chance Association.
- Published in:
- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 11, p. 1932, doi. 10.1177/10556656231188205
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- Publication type:
- Article
Arginine prevents renal tubulointerstitium from fibrosis after massive small bowel resection.
- Published in:
- Asia Pacific Journal of Clinical Nutrition, 2002, v. 11, p. S50
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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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- Publication type:
- Article
Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-70831-7
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- Publication type:
- Article
SALL4 deletion and kidney and cardiac defects associated with VACTERL association.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 8, p. 2347, doi. 10.1007/s00467-024-06306-8
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- Publication type:
- Article
Contrast-enhanced sonographic findings in a case of hepatobiliary cystadenoma with intracystic bleeding.
- Published in:
- 2006
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- Publication type:
- journal article
Rate Enhancement of the Pauson-Khand Reaction by Primary Amines.
- Published in:
- Angewandte Chemie International Edition, 1997, v. 36, n. 24, p. 2801, doi. 10.1002/anie.199728011
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- Publication type:
- Article
Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption.
- Published in:
- Congenital Anomalies, 2023, v. 63, n. 4, p. 121, doi. 10.1111/cga.12514
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- Publication type:
- Article
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome.
- Published in:
- Congenital Anomalies, 2023, v. 63, n. 2, p. 54, doi. 10.1111/cga.12506
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Heterozygous nonsense variant of CHD8 in a patient with forme‐fruste Marfan syndrome and intellectual disability.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 1, p. 30, doi. 10.1111/cga.12393
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- Publication type:
- Article
PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing.
- Published in:
- BMC Genomics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12864-023-09645-2
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- Publication type:
- Article
Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00196-8
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- Publication type:
- Article
De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4173, doi. 10.1093/hmg/ddac166
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- Publication type:
- Article
Oculofaciocardiodental syndrome caused by a novel BCOR variant.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00244-x
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- Publication type:
- Article
A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome.
- Published in:
- Clinical Pediatric Endocrinology, 2024, v. 33, n. 1, p. 39, doi. 10.1297/cpe.2023-0027
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- Publication type:
- Article
Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report.
- Published in:
- 2023
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- Publication type:
- Case Study
Genomic analysis of familial pancreatic cancers and intraductal papillary mucinous neoplasms: A cross‐sectional study.
- Published in:
- Cancer Science, 2022, v. 113, n. 5, p. 1821, doi. 10.1111/cas.15316
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- Publication type:
- Article