Found: 24
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Phenotypic characterization of <italic>KCTD3</italic>‐related developmental epileptic encephalopathy.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 5, p. 1081, doi. 10.1111/cge.13227
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- Publication type:
- Article
Expanding the phenotype of <italic>SLC25A42</italic>‐associated mitochondrial encephalomyopathy.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 5, p. 1097, doi. 10.1111/cge.13210
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- Publication type:
- Article
The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers‐Danlos syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
WDR45B‐related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 2, p. 360, doi. 10.1111/cge.13054
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- Publication type:
- Article
Homozygous truncation of SIX6 causes complex microphthalmia in humans.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 2, p. 198, doi. 10.1111/cge.12046
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- Publication type:
- Article
Mutations in ALDH1A3 cause microphthalmia.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 2, p. 128, doi. 10.1111/cge.12184
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- Publication type:
- Article
A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 2, p. 196, doi. 10.1111/j.1399-0004.2010.01613.x
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- Publication type:
- Article
A novel syndromic form of sensory-motor polyneuropathy is linked to chromosome 22q13.31-q13.33.
- Published in:
- Clinical Genetics, 2011, v. 79, n. 2, p. 193, doi. 10.1111/j.1399-0004.2010.01524.x
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- Publication type:
- Article
Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs.
- Published in:
- Clinical Genetics, 2011, v. 79, n. 1, p. 60, doi. 10.1111/j.1399-0004.2010.01498.x
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- Publication type:
- Article
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome.
- Published in:
- Clinical Genetics, 2010, v. 78, n. 6, p. 594, doi. 10.1111/j.1399-0004.2010.01447.x
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- Publication type:
- Article
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders.
- Published in:
- Human Genetics, 2024, v. 143, n. 7, p. 921, doi. 10.1007/s00439-024-02693-y
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- Publication type:
- Article
Is artificial intelligence getting too much credit in medical genetics?
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 3, p. 1, doi. 10.1002/ajmg.c.32062
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- Publication type:
- Article
ConsCal: A tool to aid medical genetics professionals in consanguineous populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2142, doi. 10.1002/ajmg.a.63301
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- Publication type:
- Article
Here and now.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1859, doi. 10.1002/ajmg.a.61622
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- Publication type:
- Article
Dorsal Dimelia: Report of Two Cases With an Emphasis On the Variation of Phenotypic Expression and a Search for Candidate Causative Genes.
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- Journal of Hand Surgery (17531934), 2010, v. 35, n. 9, p. 715, doi. 10.1177/1753193410378954
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- Publication type:
- Article
The developmental genome anatomy project: finding genes critical to human development.
- Published in:
- 2007
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- Publication type:
- Journal Article
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus.
- Published in:
- Lupus, 2017, v. 26, n. 7, p. 768, doi. 10.1177/0961203316676382
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- Publication type:
- Article
Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP‐glucose ceramide glucosyltransferase deficiency.
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype.
- Published in:
- 2006
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- Publication type:
- Correction Notice
X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 1, p. 214, doi. 10.1007/s10545-006-0123-4
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- Publication type:
- Article
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.
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- Neurogenetics, 2009, v. 10, n. 4, p. 307, doi. 10.1007/s10048-009-0185-1
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- Publication type:
- Article
Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
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- Journal of Intellectual Disability Research, 2020, v. 64, n. 12, p. 956, doi. 10.1111/jir.12787
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- Publication type:
- Article
Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0191-0
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- Publication type:
- Article
Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 50, doi. 10.1186/s12881-015-0191-0
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- Publication type:
- Article