Found: 29
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Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions.
- Published in:
- Internal Medicine, 2022, v. 61, n. 4, p. 547, doi. 10.2169/internalmedicine.7767-21
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- Publication type:
- Article
The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss.
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- Genes, 2019, v. 10, n. 10, p. 744, doi. 10.3390/genes10100744
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- Publication type:
- Article
Survival of a Male Mosaic for PORCN Mutation with Mild Focal Dermal Hypoplasia Phenotype.
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- Pediatric Dermatology, 2011, v. 28, n. 5, p. 550, doi. 10.1111/j.1525-1470.2010.01209.x
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- Publication type:
- Article
An association with hypopituitarism and 9q subtelomere deletion syndrome.
- Published in:
- Clinical Case Reports, 2018, v. 6, n. 12, p. 2371, doi. 10.1002/ccr3.1591
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- Publication type:
- Article
Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-74642-4
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- Publication type:
- Article
Proportion of malformations and genetic disorders among cases encountered at a high-care unit in a children's hospital.
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- European Journal of Pediatrics, 2012, v. 171, n. 2, p. 301, doi. 10.1007/s00431-011-1534-2
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- Publication type:
- Article
A de novo mutation (R279C) in theP63 gene in a patient with EEC syndrome.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 4, p. 314, doi. 10.1034/j.1399-0004.2001.600411.x
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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
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
Recurrent NFIA K125E substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
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- 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
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37‐PACS1‐PACS2 axis.
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- 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
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2333, doi. 10.1002/ajmg.a.61793
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- Publication type:
- 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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- Publication type:
- Article
Cover Image, Volume 179A, Number 6, June 2019.
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- 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.
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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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of sotos syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1171, doi. 10.1002/ajmg.a.36996
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- Publication type:
- Article
Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2537, doi. 10.1002/ajmg.a.35465
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- Publication type:
- Article
Congenital corneal staphyloma as a complication of Kabuki syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2000, doi. 10.1002/ajmg.a.35453
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- Publication type:
- Article
The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1292, doi. 10.1002/ajmg.a.35321
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- Publication type:
- Article
IGF2 Mutations.
- Published in:
- 2019
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- Publication type:
- journal article
1p36 deletion syndrome associated with Prader–Willi-like phenotype.
- Published in:
- Pediatrics International, 2010, v. 52, n. 4, p. 547, doi. 10.1111/j.1442-200X.2010.03090.x
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- Publication type:
- Article
Long‐term clinical course of Heyn‐Sproul‐Jackson syndrome.
- Published in:
- Congenital Anomalies, 2023, v. 63, n. 5, p. 174, doi. 10.1111/cga.12532
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- Publication type:
- Article
Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome.
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- Congenital Anomalies, 2014, v. 54, n. 4, p. 225, doi. 10.1111/cga.12065
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- Publication type:
- Article
Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: Report of two cases and review of the literature.
- Published in:
- Congenital Anomalies, 2009, v. 49, n. 1, p. 8, doi. 10.1111/j.1741-4520.2008.00212.x
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- Publication type:
- Article
Large fontanelles are a shared feature of haploinsufficiency ofRUNX2and its co-activatorCBFB.
- Published in:
- Congenital Anomalies, 2004, v. 44, n. 4, p. 225, doi. 10.1111/j.1741-4520.2004.00043.x
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- Publication type:
- Article