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Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01117-4
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- Publication type:
- Article
Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome.
- Published in:
- Familial Cancer, 2019, v. 18, n. 2, p. 261, doi. 10.1007/s10689-018-0112-4
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- Publication type:
- Article
A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 69, doi. 10.1186/s12881-014-0133-2
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- Publication type:
- Article
Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1180, doi. 10.1038/ejhg.2014.5
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- Publication type:
- Article
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-71
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- Publication type:
- Article
Autosomal Recessive Transmission of a Rare <i>KRT74</i> Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093607
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- Publication type:
- Article
Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).
- Published in:
- BMC Medical Genetics, 2012, v. 13, n. 1, p. 120, doi. 10.1186/1471-2350-13-120
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- Publication type:
- Article
Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family.
- Published in:
- Pakistan Journal of Medical Sciences, 2011, v. 27, n. 3, p. 686
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- Publication type:
- Article
Study of renal tubular glycoconjugates in tubulointerstitial damage using conjugated lectins.
- Published in:
- Journal of Pathology, 1993, v. 170, n. 2, p. 187, doi. 10.1002/path.1711700215
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- Publication type:
- Article
Morphometric study showing the importance of distal tubular damage in impaired creatinine clearance.
- Published in:
- 1993
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- Publication type:
- journal article