Found: 13
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Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 9, p. 1746, doi. 10.1093/hmg/ddt021
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- Article
De novo mutations in PLXND1 and REV3L cause Möbius syndrome.
- Published in:
- Nature Communications, 2015, v. 6, n. 6, p. 7199, doi. 10.1038/ncomms8199
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- Article
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan.
- Published in:
- Nature Genetics, 2012, v. 44, n. 5, p. 581, doi. 10.1038/ng.2253
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- Article
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
- Published in:
- Nature Genetics, 2005, v. 37, n. 5, p. 465, doi. 10.1038/ng1546
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- Article
Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.
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- PLoS Genetics, 2011, v. 7, n. 7, p. 1, doi. 10.1371/journal.pgen.1002114
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- Article
Transcriptome Analysis Identifies Multifaceted Regulatory Mechanisms Dictating a Genetic Switch from Neuronal Network Establishment to Maintenance During Postnatal Prefrontal Cortex Development.
- Published in:
- Cerebral Cortex, 2018, v. 28, n. 3, p. 833, doi. 10.1093/cercor/bhw407
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- Article
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.
- Published in:
- Nature Genetics, 2000, v. 25, n. 4, p. 423, doi. 10.1038/78113
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- Article
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.
- Published in:
- 2018
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- Correction Notice
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-LRibitol Pyrophosphorylase A Muscular Dystrophy.
- Published in:
- Clinical Chemistry, 2019, v. 65, n. 10, p. 1295, doi. 10.1373/clinchem.2019.305391
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- Article
Back Cover, Volume 43, Issue 7.
- Published in:
- Human Mutation, 2022, v. 43, n. 7, p. ii, doi. 10.1002/humu.24420
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- Article
Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome.
- Published in:
- Human Mutation, 2022, v. 43, n. 7, p. 900, doi. 10.1002/humu.24375
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- Publication type:
- Article
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1813, doi. 10.1002/ajmg.a.38274
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- Article
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 2, p. 361, doi. 10.1093/hmg/8.2.361
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- Publication type:
- Article