Found: 14
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Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother.
- Published in:
- Cardiology in the Young, 2013, v. 23, n. 1, p. 14, doi. 10.1017/S1047951112000194
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- Article
A restricted spectrum of NRAS mutations causes Noonan syndrome.
- Published in:
- Nature Genetics, 2010, v. 42, n. 1, p. 27, doi. 10.1038/ng.497
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- Article
POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 2, p. 186, doi. 10.1111/cge.14353
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- Article
Expanding the clinical spectrum associated with PACS2 mutations.
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- Clinical Genetics, 2019, v. 95, n. 4, p. 525, doi. 10.1111/cge.13516
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- Article
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. 695, doi. 10.1002/humu.20955
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- Article
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
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- Human Mutation, 2011, v. 32, n. 7, p. 760, doi. 10.1002/humu.21492
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- Article
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2958, doi. 10.1002/ajmg.a.62919
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- Article
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2719, doi. 10.1002/ajmg.a.62362
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- Article
Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2‐year‐old girl.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2372, doi. 10.1002/ajmg.a.61771
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- Article
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1977, doi. 10.1002/ajmg.a.61719
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- Article
POGZ‐related epilepsy: Case report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1631, doi. 10.1002/ajmg.a.61206
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- Article
Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1943, doi. 10.1002/ajmg.a.38269
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- Article
New Patients with Temple Syndrome Caused by 14q32 Deletion: Genotype-Phenotype Correlations and Risk of Thyroid Cancer.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 162, doi. 10.1002/ajmg.a.37346
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- Article
Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.
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- Cytogenetic & Genome Research, 2017, v. 151, n. 4, p. 179, doi. 10.1159/000475490
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- Article