Found: 25
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Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 4, p. 334, doi. 10.1111/cge.12775
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- Publication type:
- Article
Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta.
- Published in:
- Clinical Genetics, 2016, v. 89, n. 4, p. 517, doi. 10.1111/cge.12678
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- Publication type:
- Article
Unmasking Kabuki syndrome.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 201, doi. 10.1111/cge.12051
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- Publication type:
- Article
Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 212, doi. 10.1111/cge.12050
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- Publication type:
- Article
Response to Diaz.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 296, doi. 10.1111/cge.12099
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- Publication type:
- Article
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 3, p. 223, doi. 10.1111/j.1399-0004.2008.01053.x
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- Publication type:
- Article
A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1–p13.3.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 3, p. 212, doi. 10.1111/j.1399-0004.2007.00762.x
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- Publication type:
- Article
Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 1, p. 65, doi. 10.1034/j.1399-0004.2003.00101.x
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- Publication type:
- Article
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 4, p. 306, doi. 10.1034/j.1399-0004.2002.620409.x
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- Publication type:
- Article
CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor.
- Published in:
- European Journal of Neurology, 2002, v. 9, n. 1, p. 23, doi. 10.1046/j.1468-1331.2002.00344.x
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- Publication type:
- Article
A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 4, p. 336, doi. 10.1002/pd.592
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- Publication type:
- Article
Catecholaminergic polymorphic ventricular tachycardia caused by a novel mutation in the cardiac ryanodine receptor.
- Published in:
- 2008
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- Publication type:
- Journal Article
A Novel Semiquantitative Polymerase Chain Reaction/Enzyme Digestion-Based Method for Detection of Large Scale Deletions/Conversions of the CYP21 Gene and Mutation Screening in Turkish Families with 21-Hydroxylase Deficiency.
- Published in:
- 2003
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- Publication type:
- journal article
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
- Published in:
- Journal of Molecular Medicine, 2005, v. 83, n. 12, p. 1025, doi. 10.1007/s00109-005-0719-4
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- Publication type:
- Article
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
- Published in:
- Human Genetics, 2013, v. 132, n. 8, p. 885, doi. 10.1007/s00439-013-1295-2
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- Publication type:
- Article
Ionenkanalerkrankungen der Niere und Nebenniere.
- Published in:
- Medizinische Genetik, 2013, v. 25, n. 4, p. 480, doi. 10.1007/s11825-013-0423-7
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- Publication type:
- Article
Klinik und Genetik syndromaler und nichtsyndromaler Kraniosynostosen.
- Published in:
- Medizinische Genetik, 2013, v. 25, n. 3, p. 373, doi. 10.1007/s11825-013-0412-x
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- Publication type:
- Article
Hormonal induction of an immediate–early gene response in myogenic cell lines—a paradigm for heart growth.
- Published in:
- European Heart Journal, 1995, v. 16, n. suppl_C, p. 12, doi. 10.1093/eurheartj/16.suppl_c.12
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- Publication type:
- Article
Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from Central Asia and was spread throughout Europe and Anatolia by human migrations.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 17, doi. 10.1023/A:1024063126954
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- Publication type:
- Article
A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomaldominant inherited congenital heart disease.
- Published in:
- Clinical Research in Cardiology, 2008, v. 97, n. 1, p. 39, doi. 10.1007/s00392-007-0574-0
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- Publication type:
- Article
Moderne humangenetische Beratung.
- Published in:
- Der Internist, 2018, v. 59, n. 8, p. 790, doi. 10.1007/s00108-018-0452-z
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- Publication type:
- Article
The Results of Cytogenetic Analysis with Regard to Intracytoplasmic Sperm Injection in Males, Females and Fetuses.
- Published in:
- Fetal Diagnosis & Therapy, 2004, v. 19, n. 4, p. 313, doi. 10.1159/000077958
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- Publication type:
- Article
A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies.
- Published in:
- Molecular Syndromology, 2010, v. 1, n. 1, p. 27, doi. 10.1159/000276763
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- Publication type:
- Article
Molekulare Mechanismen des Seckel-Syndroms.
- Published in:
- Medizinische Genetik, 2012, v. 24, n. 4, p. 284, doi. 10.1007/s11825-012-0359-3
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- Publication type:
- Article
Progeroide Erkrankungen und ihre Mechanismen.
- Published in:
- 2012
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- Publication type:
- Editorial