Found: 11
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Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.
- Published in:
- 2017
- By:
- Publication type:
- Letter
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 207, doi. 10.1002/ajmg.a.37962
- By:
- Publication type:
- Article
Macro-Invertebrate Decline in Surface Water Polluted with Imidacloprid
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0062374
- By:
- Publication type:
- Article
What's new in pontocerebellar hypoplasia? An update on genes and subtypes.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02735-0
- By:
- Publication type:
- Article
For better or worse: Governing healthcare organisations in times of financial distress.
- Published in:
- Sociology of Health & Illness, 2024, v. 46, n. 5, p. 926, doi. 10.1111/1467-9566.13744
- By:
- Publication type:
- Article
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 897, doi. 10.1007/s10545-018-0151-x
- By:
- Publication type:
- Article
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.
- Published in:
- Hormone Research in Paediatrics, 2022, v. 94, n. 11/12, p. 448, doi. 10.1159/000520410
- By:
- Publication type:
- Article
Parents' views on accepting, declining, and expanding newborn bloodspot screening.
- Published in:
- PLoS ONE, 2022, v. 17, n. 8, p. 1, doi. 10.1371/journal.pone.0272585
- By:
- Publication type:
- Article
Does artemether–lumefantrine administration affect mosquito olfactory behaviour and fitness?
- Published in:
- Malaria Journal, 2019, v. 18, n. 1, p. 1, doi. 10.1186/s12936-019-2646-9
- By:
- Publication type:
- Article