Works matching IS 23732873 AND DT 2020 AND VI 6 AND IP 3
Results: 16
Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005033
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- Publication type:
- Article
Clinical IRAK4 deficiency caused by homozygosity for the novel IRAK4 (c.1049delG, p.Gly350Glufs*15) variant.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005298
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- Publication type:
- Article
Reticular dysgenesis caused by an intronic pathogenic variant in AK2.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005017
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- Publication type:
- Article
Pediatric genetics: rare is common.
- Published in:
- 2020
- By:
- Publication type:
- Editorial
A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005322
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- Publication type:
- Article
Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005074
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- Publication type:
- Article
De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a004721
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- Publication type:
- Article
Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005306
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- Publication type:
- Article
Precise breakpoint detection in a patient with 9p- syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005348
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- Publication type:
- Article
Allelic heterogeneity of Proteus syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005181
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- Publication type:
- Article
A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype.
- Published in:
- 2020
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- Publication type:
- Case Study
Early-onset cerebellar ataxia in a patient with CMT2A2.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005108
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- Publication type:
- Article
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005231
- By:
- Publication type:
- Article
A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a004879
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- Publication type:
- Article
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a003970
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- Publication type:
- Article
Case report for an adolescent with germline RET mutation and alveolar rhabdomyosarcoma.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a004853
- By:
- Publication type:
- Article