Found: 25
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Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 454, doi. 10.1038/ejhg.2008.214
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- Publication type:
- Article
Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.
- Published in:
- Journal of Biochemistry, 2013, v. 153, n. 1, p. 111, doi. 10.1093/jb/mvs131
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- Publication type:
- Article
Isozyme-Specific Role of SAD-A in Neuronal Migration During Development of Cerebral Cortex.
- Published in:
- Cerebral Cortex, 2019, v. 29, n. 9, p. 3738, doi. 10.1093/cercor/bhy253
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- Publication type:
- Article
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.
- Published in:
- Nature Genetics, 2001, v. 27, n. 4, p. 369, doi. 10.1038/86860
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- Publication type:
- Article
Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome.
- Published in:
- Scientific Reports, 2017, p. 46565, doi. 10.1038/srep46565
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- Publication type:
- Article
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.
- Published in:
- 2008
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- Publication type:
- journal article
High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice.
- Published in:
- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0180279
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- Publication type:
- Article
MBTPS2 mutation causes BRESEK/BRESHECK syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 97, doi. 10.1002/ajmg.a.34373
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- Publication type:
- Article
Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter).
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2274, doi. 10.1002/ajmg.a.34160
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- Publication type:
- Article
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.
- Published in:
- BMC Medical Genetics, 2010, v. 11, p. 171, doi. 10.1186/1471-2350-11-171
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- Publication type:
- Article
Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 253, doi. 10.1002/humu.1186
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- Publication type:
- Article
A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3.
- Published in:
- Human Mutation, 2001, v. 17, n. 1, p. 78, doi. 10.1002/1098-1004(2001)17:1<78::AID-HUMU21>3.0.CO;2-B
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- Publication type:
- Article
Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation.
- Published in:
- Human Mutation, 2020, v. 41, n. 8, p. 1447, doi. 10.1002/humu.24058
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- Publication type:
- Article
De novo inbred heterozygous Zeb2/Sip1 mutant mice uniquely generated by germ-line conditional knockout exhibit craniofacial, callosal and behavioral defects associated with Mowat-Wilson syndrome.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6390, doi. 10.1093/hmg/ddv350
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- Publication type:
- Article
R3HDM1 haploinsufficiency is associated with mild intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1776, doi. 10.1002/ajmg.a.62173
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- Publication type:
- Article
Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2201, doi. 10.1002/ajmg.a.38313
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- Publication type:
- Article
Erratum to 'The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations'.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1428, doi. 10.1002/ajmg.a.36911
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- Publication type:
- Article
Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1180, doi. 10.1002/ajmg.a.36434
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- Publication type:
- Article
Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 924, doi. 10.1002/ajmg.a.36373
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- Publication type:
- Article
Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 1, p. 1, doi. 10.1093/hmg/5.1.1
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- Publication type:
- Article
A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 4, p. 777
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- Publication type:
- Article
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 1, p. 139
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- Publication type:
- Article
Mowat-Wilson Syndrome Affecting 3 Siblings.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 3, p. 274, doi. 10.1177/0883073807309231
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- Publication type:
- Article
Hearing impairment in a female infant with interstitial deletion of 2q24.1q24.3.
- Published in:
- Congenital Anomalies, 2017, v. 57, n. 4, p. 118, doi. 10.1111/cga.12207
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- Publication type:
- Article
Clinical variability in a Japanese hereditary lymphedema type I family with anFLT4mutation.
- Published in:
- Congenital Anomalies, 2005, v. 45, n. 2, p. 59, doi. 10.1111/j.1741-4520.2005.00064.x
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- Publication type:
- Article