Works matching IS 23732873 AND DT 2022 AND VI 8 AND IP 2
Results: 19
Personalized medicine for rare neurogenetic disorders: can we make it happen?
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006200
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- Article
Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006173
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- Article
A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006131
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- Article
Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinity.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006137
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- Article
Rare diseases: human genome research is coming home.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006210
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- Article
Novel variants identified in CKAP2L in two siblings with Filippi syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006130
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- Article
Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006179
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- Article
Toward transcriptomics as a primary tool for rare disease investigation.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006198
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- Article
A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006096
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- Article
Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006165
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2022: a pivotal year for diagnosis and treatment of rare genetic diseases.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006204
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Expanding the clinical phenotype of FGFR1 internal tandem duplication.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006174
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- Article
m.3685T >C is a novel mitochondrial DNAvariant that causes Leigh syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006136
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- Article
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006180
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- Article
Ethylmalonic encephalopathy masquerading as meningococcemia.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006193
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A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006185
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- Article
Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006103
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- Article
A case for newborn screening for pyridoxine-dependent epilepsy.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006197
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- Article
Patient perspective: my rare disease journey.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006205
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- Article