Found: 21
Select item for more details and to access through your institution.
Chorioretinal lesions as the unique feature of complete chronic granulomatous disease in an 8-year-old girl.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Severe X-linked chronic granulomatous disease in two unrelated females.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
- Published in:
- Neurogenetics, 2022, v. 23, n. 1, p. 27, doi. 10.1007/s10048-021-00666-1
- By:
- Publication type:
- Article
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.
- Published in:
- Neurogenetics, 2021, v. 22, n. 1, p. 43, doi. 10.1007/s10048-020-00629-y
- By:
- Publication type:
- Article
PTHR1 mutations associated with Ollier disease result in receptor loss of function.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2766, doi. 10.1093/hmg/ddn176
- By:
- Publication type:
- Article
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 776, doi. 10.1038/ejhg.2013.243
- By:
- Publication type:
- Article
Association Between Endothelin Receptor B Nonsynonymous Variants and Melanoma Risk.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2005, v. 97, n. 17, p. 1297, doi. 10.1093/jnci/dji253
- By:
- Publication type:
- Article
The A148T Variant of the CDKN2A Gene Is Not Associated with Melanoma Risk in the French and Italian Populations.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 732, doi. 10.1111/cge.13933
- By:
- Publication type:
- Article
Complex Allele with Additive Gain-of-Function STING1 Variants in a Patient with Cavitating Lung Lesions and Aspergillosis.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 6, p. 1156, doi. 10.1007/s10875-022-01284-8
- By:
- Publication type:
- Article
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
- Published in:
- Human Genetics, 2022, v. 141, n. 1, p. 65, doi. 10.1007/s00439-021-02383-z
- By:
- Publication type:
- Article
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34264-y
- By:
- Publication type:
- Article
Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.
- Published in:
- Human Mutation, 2008, v. 29, n. 9, p. E132, doi. 10.1002/humu.20820
- By:
- Publication type:
- Article
Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).
- Published in:
- Human Mutation, 2001, v. 18, n. 2, p. 163, doi. 10.1002/humu.1166
- By:
- Publication type:
- Article
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 848, doi. 10.1002/humu.24208
- By:
- Publication type:
- Article
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
- Published in:
- Human Mutation, 2020, v. 41, n. 5, p. 926, doi. 10.1002/humu.23998
- By:
- Publication type:
- Article
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. 755, doi. 10.1002/humu.23001
- By:
- Publication type:
- Article
A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.
- Published in:
- Human Mutation, 2011, v. 32, n. 9, p. 989, doi. 10.1002/humu.21528
- By:
- Publication type:
- Article
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1626, doi. 10.1002/ajmg.a.37645
- By:
- Publication type:
- Article
Deletion mapping indicates that MTS1 is the target of frequent deletions at chromosome 9p21 in paediatric acute lymphoblastic leukaemias.
- Published in:
- British Journal of Haematology, 1996, v. 92, n. 2, p. 410, doi. 10.1046/j.1365-2141.1996.d01-1497.x
- By:
- Publication type:
- Article