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Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.
- Published in:
- Case Reports in Ophthalmological Medicine, 2020, p. 1, doi. 10.1155/2020/6535974
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- Publication type:
- Article
Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1171
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- Article
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.656
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- Article
Cover Image, Volume 176A, Number 4, April 2018.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1, doi. 10.1002/ajmg.a.38671
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- Article
Natural history and genotype‐phenotype correlations in 72 individuals with <italic>SATB2</italic>‐associated syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 925, doi. 10.1002/ajmg.a.38630
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- Article
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2720, doi. 10.1002/ajmg.a.38351
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- Article
Genetic hearing loss: the journey of discovery to destination - how close are we to therapy?
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- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 6, p. 583, doi. 10.1002/mgg3.260
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- Article
The Clinical and Audiologic Features of Hearing Loss Due to Mitochondrial Mutations: Response to Editor.
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- Otolaryngology-Head & Neck Surgery, 2013, v. 149, n. 5, p. 795, doi. 10.1177/0194599813502927
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- Publication type:
- Article
The Clinical and Audiologic Features of Hearing Loss Due to Mitochondrial Mutations.
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- Otolaryngology-Head & Neck Surgery, 2013, v. 148, n. 6, p. 1017, doi. 10.1177/0194599813482705
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- Article
Risk Factors Associated With Unilateral Hearing Loss.
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- JAMA Otolaryngology-Head & Neck Surgery, 2013, v. 139, n. 1, p. 59, doi. 10.1001/jamaoto.2013.1097
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- Article
GPSM2 mutations in Chudley-McCullough syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2972, doi. 10.1002/ajmg.a.35636
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- Article
Traits of Mitochondrial Deafness in a National Repository.
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- Otolaryngology-Head & Neck Surgery, 2012, v. 145, n. 2, p. P238, doi. 10.1177/0194599812451426a360
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- Article
Intraventricular twin fetuses in fetu.
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- Journal of Neurosurgery, 2012, p. 17, doi. 10.3171/2011.10.PEDS11196
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- Article
Impact of Co-Occurring Birth Defects on the Timing of Newborn Hearing Screening and Diagnosis.
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- American Journal of Audiology, 2011, v. 20, n. 2, p. 132, doi. 10.1044/1059-0889(2011/10-0049)
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- Article
Impact of Co-Occurring Birth Defects on the Timing of Newborn Hearing Screening and Diagnosis.
- Published in:
- 2011
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- Journal Article
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1298, doi. 10.1002/ajmg.a.33970
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- Article
Presence of SPINK-1 variant alters the course of chronic pancreatitis.
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- Journal of Gastroenterology & Hepatology, 2011, v. 26, n. 6, p. 965, doi. 10.1111/j.1440-1746.2011.06713.x
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- Article
Vestibular dysfunction in DFNB1 deafness.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 993, doi. 10.1002/ajmg.a.33828
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- Article
GJB2 Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf.
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- Annals of Human Genetics, 2010, v. 74, n. 2, p. 155, doi. 10.1111/j.1469-1809.2010.00564.x
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- Article
Fitness Among Individuals with Early Childhood Deafness: Studies in Alumni Families from Gallaudet University.
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- Annals of Human Genetics, 2010, v. 74, n. 1, p. 27, doi. 10.1111/j.1469-1809.2009.00553.x
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- Publication type:
- Article
Provision of Genetic Services for Hearing Loss: Results from a National Survey and Comparison to Insights Obtained from Previous Focus Group Discussions.
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- Journal of Genetic Counseling, 2009, v. 18, n. 6, p. 618, doi. 10.1007/s10897-009-9246-8
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- Publication type:
- Article
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
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- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 517, doi. 10.1038/ejhg.2008.201
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- Article
Consumer Motivations for Pursuing Genetic Testing and their Preferences for the Provision of Genetic Services for Hearing Loss.
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- Journal of Genetic Counseling, 2008, v. 17, n. 3, p. 252, doi. 10.1007/s10897-007-9143-y
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- Publication type:
- Article
Consumer Motivations for Pursuing Genetic Testing and their Preferences for the Provision of Genetic Services for Hearing Loss.
- Published in:
- Journal of Genetic Counseling, 2008, v. 17, n. 3, p. 252, doi. 10.1007/s10897-007-9143-y
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- Publication type:
- Article
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians.
- Published in:
- Human Genetics, 2003, v. 114, n. 1, p. 44, doi. 10.1007/s00439-003-1018-1
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- Publication type:
- Article
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss.
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- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1155, doi. 10.1093/hmg/ddg127
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- Publication type:
- Article
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.
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- Human Genetics, 2002, v. 111, n. 1, p. 26, doi. 10.1007/s00439-002-0736-0
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- Article
Mutations in GJA1(connexin43) are associated with non-syndromic autosomal recessive deafness.
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- Human Molecular Genetics, 2001, v. 10, n. 25, p. 2945, doi. 10.1093/hmg/10.25.2945
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- Article
Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities.
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- European Journal of Human Genetics, 2001, v. 9, n. 5, p. 375, doi. 10.1038/sj.ejhg.5200628
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- Article
Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.
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- Human Genetics, 2001, v. 108, n. 5, p. 385, doi. 10.1007/s004390100507
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- Article
Fine Mapping of the Human Biotinidase Gene and Haplotype Analysis of Five Common Mutations.
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- Human Heredity, 2000, v. 50, n. 2, p. 102, doi. 10.1159/000022897
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- Article
Partial trisomy 10 mosaicism with cutaneous manifestations: report of a case and review of the literature.
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- Clinical Genetics, 1996, v. 50, n. 5, p. 417, doi. 10.1111/j.1399-0004.1996.tb02399.x
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- Article
Phenotypic Variation in Waardenburg Syndrome: Mutational Heterogeneity, Modifier Genes or Polygenic Background?
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- Human Molecular Genetics, 1996, v. 5, n. 4, p. 497, doi. 10.1093/hmg/5.4.497
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- Article