Found: 20
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Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 6, p. 523, doi. 10.1159/000531715
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- Publication type:
- Article
X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 4, p. 283, doi. 10.1159/000529545
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- Publication type:
- Article
Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 389, doi. 10.1159/000523956
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- Publication type:
- Article
KBG syndrome in two patients from Egypt.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1309, doi. 10.1002/ajmg.a.61552
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- Publication type:
- Article
Phenotypic spectrum of NDE1‐related disorders: from microlissencephaly to microhydranencephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 494, doi. 10.1002/ajmg.a.61035
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- Publication type:
- Article
Long-Term Survival in Microcephalic Osteodysplastic Primordial Dwarfism Type I: Evaluation of an 18-Year-Old Male with g.55G>A Homozygous Mutation in RNU4ATAC.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 277, doi. 10.1002/ajmg.a.37409
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- Publication type:
- Article
Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1089, doi. 10.1002/ajmg.a.37010
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- Publication type:
- Article
Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: A rare co-occurrence with bipartite parietal bone.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 480, doi. 10.1002/ajmg.a.36276
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- Publication type:
- Article
Further delineation of the clinical spectrum in RNU 4 ATAC related microcephalic osteodysplastic primordial dwarfism type I.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1875, doi. 10.1002/ajmg.a.36009
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- Publication type:
- Article
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2788, doi. 10.1002/ajmg.a.35583
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- Publication type:
- Article
Profound microcephaly, primordial dwarfism with developmental brain malformations: A new syndrome.
- Published in:
- 2012
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- Publication type:
- Other
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1455, doi. 10.1002/ajmg.a.35356
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- Publication type:
- Article
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2885, doi. 10.1002/ajmg.a.34299
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- Publication type:
- Article
Expanding the mutation and clinical spectrum of Roberts syndrome.
- Published in:
- Congenital Anomalies, 2016, v. 56, n. 4, p. 154, doi. 10.1111/cga.12151
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- Publication type:
- Article
De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.
- Published in:
- Pediatric Dermatology, 2016, v. 33, n. 2, p. e109, doi. 10.1111/pde.12821
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- Publication type:
- Article
Ectodermal Abnormalities in Patients with Kabuki Syndrome.
- Published in:
- Pediatric Dermatology, 2011, v. 28, n. 5, p. 507, doi. 10.1111/j.1525-1470.2011.01495.x
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- Publication type:
- Article
Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations.
- Published in:
- 2020
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- Publication type:
- journal article
Mutation Spectrum in RAB 3 GAP 1, RAB 3 GAP 2, and RAB 18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome.
- Published in:
- Human Mutation, 2013, v. 34, n. 5, p. 686, doi. 10.1002/humu.22296
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- Publication type:
- Article
Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation.
- Published in:
- Cytogenetic & Genome Research, 2020, v. 160, n. 3, p. 124, doi. 10.1159/000506430
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- Publication type:
- Article
Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features.
- Published in:
- Cytogenetic & Genome Research, 2019, v. 159, n. 3, p. 130, doi. 10.1159/000504075
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- Publication type:
- Article