Found: 14
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A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00131
- By:
- Publication type:
- Article
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism.
- Published in:
- 2020
- By:
- Publication type:
- Abstract
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2901, doi. 10.1002/ajmg.a.40664
- By:
- Publication type:
- Article
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 889, doi. 10.1038/sj.ejhg.5201844
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- Publication type:
- Article
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype.
- Published in:
- European Journal of Haematology, 2010, v. 84, n. 4, p. 291, doi. 10.1111/j.1600-0609.2009.01398.x
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- Publication type:
- Article
The clear cell sarcoma functional genomic landscape.
- Published in:
- 2021
- By:
- Publication type:
- journal article
P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1533, doi. 10.1002/acn3.50821
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- Publication type:
- Article
Δ<sup>1</sup>‐Pyrroline‐5‐carboxylate synthetase deficiency: An emergent multifaceted urea cycle‐related disorder.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 657, doi. 10.1002/jimd.12220
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- Publication type:
- Article
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 409, doi. 10.1002/humu.20661
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- Publication type:
- Article
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene.
- Published in:
- Genes, 2024, v. 15, n. 4, p. 430, doi. 10.3390/genes15040430
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- Publication type:
- Article
Experimental Cell Models for Investigating Neurodegenerative Diseases.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 17, p. 9747, doi. 10.3390/ijms25179747
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- Publication type:
- Article
Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p.
- Published in:
- Human Heredity, 2007, v. 63, n. 3/4, p. 205, doi. 10.1159/000099997
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- Publication type:
- Article