Found: 18
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Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
- Published in:
- Orphanet Journal of Rare Diseases, 2017, v. 12, p. 1
- By:
- Publication type:
- Article
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 4, p. 465, doi. 10.1002/pd.6537
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- Publication type:
- Article
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 557, doi. 10.1002/ajmg.c.31749
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- Publication type:
- Article
The clinical presentation caused by truncating CHD8 variants.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 1, p. 72, doi. 10.1111/cge.13554
- By:
- Publication type:
- Article
Mesomelia‐synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
MINIMUM CHANGE IN HEMOCULTURE PROTOCOL SIGNIFICANTLY IMPROVES ITS POSITIVITY AND CONCORDANCE WITH SEROLOGICAL AND MOLECULAR RESULTS IN CHRONIC CHAGAS DISEASE.
- Published in:
- Brazilian Journal of Surgery & Clinical Research, 2017, v. 18, n. 2, p. 52
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- Publication type:
- Article
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1401705
- By:
- Publication type:
- Article
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
- Published in:
- Skeletal Muscle, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0170-1
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- Publication type:
- Article
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.
- Published in:
- Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab163
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- Publication type:
- Article
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
- Published in:
- Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab075
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- Publication type:
- Article
A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2543, doi. 10.1002/ajmg.a.34201
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- Publication type:
- Article
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Autosomal recessive primary microcephaly due to <italic>ASPM</italic> mutations: An update.
- Published in:
- Human Mutation, 2018, v. 39, n. 3, p. 319, doi. 10.1002/humu.23381
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- Publication type:
- Article
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1021, doi. 10.1002/ajmg.a.61515
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- Publication type:
- Article
De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 632, doi. 10.1002/ajmg.a.35777
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- Publication type:
- Article
408 kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: A genetic counseling dilemma in paternal carrier status.
- Published in:
- Congenital Anomalies, 2015, v. 55, n. 1, p. 65, doi. 10.1111/cga.12078
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- Publication type:
- Article