Found: 19
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Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release.
- Published in:
- Journal of Neuroscience, 2018, v. 38, n. 4, p. 901, doi. 10.1523/JNEUROSCI.1357-17.2017
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- Publication type:
- Article
Lack of replication of previous autism spectrum disorder GWAS hits in European populations.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2017, v. 10, n. 2, p. 202, doi. 10.1002/aur.1662
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- Publication type:
- Article
Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia.
- Published in:
- 2016
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- Publication type:
- journal article
Identification of Distinct Mutations in AAGAB in Families with Type 1 Punctate Palmoplantar Keratoderma.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 6, p. 1749, doi. 10.1038/jid.2014.4
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- Publication type:
- Article
Mutation Prevalence of Cerebral Cavernous Malformation Genes in Spanish Patients.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086286
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- Publication type:
- Article
Atrichia with Papular Lesions Resulting from Novel Compound Heterozygous Mutations in the Human Hairless Gene.
- Published in:
- Pediatric Dermatology, 2007, v. 24, n. 5, p. E79, doi. 10.1111/j.1525-1470.2007.00448.x
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- Publication type:
- Article
A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis.
- Published in:
- 2004
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- Publication type:
- Letter
Mutation Report De novo mutations in monilethrix.
- Published in:
- Experimental Dermatology, 2003, v. 12, n. 6, p. 882, doi. 10.1111/j.0906-6705.2003.00022.x
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- Publication type:
- Article
Germline Fumarate Hydratase Mutations in Families with Multiple Cutaneous and Uterine Leiomyomata.
- Published in:
- Journal of Investigative Dermatology, 2003, v. 121, n. 4, p. 741, doi. 10.1046/j.1523-1747.2003.12499.x
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- Publication type:
- Article
A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma.
- Published in:
- Experimental Dermatology, 2003, v. 12, n. 4, p. 523, doi. 10.1034/j.1600-0625.2003.00017.x
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- Publication type:
- Article
Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions.
- Published in:
- Journal of Investigative Dermatology, 2003, v. 121, n. 2, p. 430, doi. 10.1046/j.1523-1747.2003.12370.x
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- Publication type:
- Article
A Recurrent Mutation in the ARS (Component B) Gene Encoding SLURP-1 in Turkish Families with Mal de Meleda: Evidence of a Founder Effect.
- Published in:
- Journal of Investigative Dermatology, 2003, v. 120, n. 6, p. 967, doi. 10.1046/j.1523-1747.2003.12248.x
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- Publication type:
- Article
Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.
- Published in:
- Human Mutation, 2002, v. 20, n. 6, p. 476, doi. 10.1002/humu.9086
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- Publication type:
- Article
Multiple Cutaneous and Uterine Leiomyomas: Refinement of the Genetic Locus for Multiple Cutaneous and Uterine Leiomyomas on Chromosome 1q42.3–43.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 118, n. 5, p. 876, doi. 10.1046/j.1523-1747.2002.01741.x
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- Publication type:
- Article
Evidence for Pseudodominant Inheritance of Atrichia with Papular Lesions.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 118, n. 5, p. 881, doi. 10.1046/j.1523-1747.2002.01740.x
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- Publication type:
- Article
EB Simplex Superficialis Resulting from a Mutation in the Type VII Collagen Gene.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 118, n. 3, p. 547, doi. 10.1046/j.0022-202x.2001.01702.x
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- Publication type:
- Article
Evidence for Extensive Locus Heterogeneity in Naxos Disease.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 118, n. 3, p. 557, doi. 10.1046/j.0022-202x.2001.01627.x
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- Publication type:
- Article
Maternal Germline Mosaicism in Dominant Dystrophic Epidermolysis Bullosa.
- Published in:
- Journal of Investigative Dermatology, 2001, v. 117, n. 5, p. 1327, doi. 10.1046/j.0022-202x.2001.01558.x
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- Publication type:
- Article
Spectrum of ABCA4 ( ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
- Published in:
- Human Mutation, 2001, v. 17, n. 6, p. 504, doi. 10.1002/humu.1133
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- Publication type:
- Article