Found: 26
Select item for more details and to access through your institution.
Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.
- Published in:
- EMBO Molecular Medicine, 2020, v. 12, n. 9, p. 1, doi. 10.15252/emmm.202013133
- By:
- Publication type:
- Article
Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 3, p. 299, doi. 10.1002/emmm.201303573
- By:
- Publication type:
- Article
Beyond the disease itself: A cross‐cutting educational initiative for patients and families with rare diseases.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 3, p. 693, doi. 10.1002/jgc4.1354
- By:
- Publication type:
- Article
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 9029, doi. 10.3390/ijms22169029
- By:
- Publication type:
- Article
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals.
- Published in:
- Human Genetics, 2024, v. 143, n. 1, p. 71, doi. 10.1007/s00439-023-02622-5
- By:
- Publication type:
- Article
Clinical and molecular characterization of five new individuals with WAC‐related intellectual disability: Evidence of pathogenicity for a novel splicing variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1396, doi. 10.1002/ajmg.a.62648
- By:
- Publication type:
- Article
Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 991, doi. 10.1002/ajmg.a.62596
- By:
- Publication type:
- Article
Expanding the phenotype of cerebellar‐facial‐dental syndrome: Two siblings with a novel variant in BRF1.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2742, doi. 10.1002/ajmg.a.61839
- By:
- Publication type:
- Article
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00636
- By:
- Publication type:
- Article
Contribution of Rare Copy Number Variants to Isolated Human Malformations.
- Published in:
- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0045530
- By:
- Publication type:
- Article
New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro- Haplogroup R0.
- Published in:
- PLoS ONE, 2009, v. 4, n. 4, p. 1, doi. 10.1371/journal.pone.0005112
- By:
- Publication type:
- Article
Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases.
- Published in:
- Human Genetics, 2001, v. 108, n. 3, p. 222, doi. 10.1007/s004390000452
- By:
- Publication type:
- Article
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.
- Published in:
- Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.02325
- By:
- Publication type:
- Article
Provision of Genetic Services for Autism and its Impact on Spanish Families.
- Published in:
- Journal of Autism & Developmental Disorders, 2017, v. 47, n. 10, p. 2947, doi. 10.1007/s10803-017-3203-4
- By:
- Publication type:
- Article
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.
- Published in:
- Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13229-015-0017-0
- By:
- Publication type:
- Article
Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0".
- Published in:
- 2019
- By:
- Publication type:
- Letter
Severe brain involvement in 5q spinal muscular atrophy type 0.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 787, doi. 10.1002/humu.24200
- By:
- Publication type:
- Article
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 10, p. 1795, doi. 10.1093/hmg/ddp092
- By:
- Publication type:
- Article
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1413, doi. 10.3390/genes13081413
- By:
- Publication type:
- Article
Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 738, doi. 10.3390/genes12050738
- By:
- Publication type:
- Article
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene (Communicated by Graham R. Taylor).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 136, doi. 10.1002/humu.10245
- By:
- Publication type:
- Article
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 geneCommunicated by Graham R. Taylor.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 136, doi. 10.1002/humu.10245
- By:
- Publication type:
- Article
Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene.
- Published in:
- Human Mutation, 2002, v. 20, n. 6, p. 452, doi. 10.1002/humu.10144
- By:
- Publication type:
- Article
Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 50, doi. 10.1186/1471-2350-12-50
- By:
- Publication type:
- Article
Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.
- Published in:
- BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-27
- By:
- Publication type:
- Article