Found: 25
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Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 6, p. 620, doi. 10.1111/cge.14492
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- Publication type:
- Article
Clinical and molecular characterization of patients with YWHAG‐related epilepsy.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 5, p. 1439, doi. 10.1111/epi.17939
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- Publication type:
- Article
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
- Published in:
- Nucleic Acids Research, 2024, v. 52, n. 4, p. e18, doi. 10.1093/nar/gkad1223
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- Publication type:
- Article
Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256
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- Publication type:
- Article
Human 'knockouts' of CSF3 display severe congenital neutropenia.
- Published in:
- British Journal of Haematology, 2023, v. 203, n. 3, p. 477, doi. 10.1111/bjh.19054
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- Publication type:
- Article
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1195, doi. 10.1002/jimd.12679
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- Publication type:
- Article
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02888-y
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- Publication type:
- Article
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 344, doi. 10.1111/cge.14348
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- Publication type:
- Article
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3528, doi. 10.1093/brain/awad033
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- Publication type:
- Article
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 794, doi. 10.1002/ajmg.a.63080
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- Publication type:
- Article
WIPI proteins: Biological functions and related syndromes.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.1011918
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- Publication type:
- Article
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2360, doi. 10.1002/ajmg.a.62872
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- Publication type:
- Article
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2153, doi. 10.1002/ajmg.a.62727
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- Publication type:
- Article
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 5/6, p. 530, doi. 10.1111/cge.14132
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- Publication type:
- Article
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 735, doi. 10.1002/ajmg.a.62565
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- Publication type:
- Article
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
- Published in:
- 2022
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- Publication type:
- journal article
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 648, doi. 10.1002/ajmg.a.62561
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- Publication type:
- Article
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 10, p. 2052, doi. 10.1002/acn3.51454
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- Publication type:
- Article
Risk of sudden cardiac death in EXOSC5‐related disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2532, doi. 10.1002/ajmg.a.62352
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- Publication type:
- Article
A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1972, doi. 10.1002/ajmg.a.62192
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- Publication type:
- Article
Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2241, doi. 10.1002/ajmg.a.62221
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- Publication type:
- Article
Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease.
- Published in:
- Muscle & Nerve, 2021, v. 63, n. 3, p. 304, doi. 10.1002/mus.27112
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- Publication type:
- Article
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
- Published in:
- 2020
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- Publication type:
- letter
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 610, doi. 10.1002/acn3.51003
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- Publication type:
- Article
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1395, doi. 10.1002/acn3.50824
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- Publication type:
- Article