Publikationen von Andreas Tzschach
Alle Typen
Zeitschriftenartikel (80)
21.
Zeitschriftenartikel
129 (2), S. 141 - 148 (2010)
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 nvel loci and several mutation hotspots. Human Genetics 22.
Zeitschriftenartikel
47 (12), S. 823 - 828 (2010)
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. Journal of Medical Genetics. 23.
Zeitschriftenartikel
152A (10), S. 2651 - 2655 (2010)
11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features. American Journal of Medical Genetics. Part A. 24.
Zeitschriftenartikel
19, S. 115 - 117 (2010)
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. European Journal of Human Genetics 25.
Zeitschriftenartikel
169 (12), S. 1535 - 1539 (2010)
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature. European Journal of Pediatrics 26.
Zeitschriftenartikel
86 (6), S. 949 - 956 (2010)
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. American Journal of Human Genetics 27.
Zeitschriftenartikel
3 (1-4), S. 83 - 83 (2010)
Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. The Hugo Journal 28.
Zeitschriftenartikel
152A (4), S. 1008 - 1012 (2010)
Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement. American Journal of Medical Genetics. Part A. 29.
Zeitschriftenartikel
77 (6), S. 541 - 551 (2010)
Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. Clinical Genetics: an International Journal of Genetics in Medicine 30.
Zeitschriftenartikel
18 (3), S. 291 - 295 (2010)
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG 31.
Zeitschriftenartikel
18 (3), S. 291 - 295 (2010)
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG 32.
Zeitschriftenartikel
86 (2), S. 185 - 195 (2010)
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. The American Journal of Human Genetics 33.
Zeitschriftenartikel
3, S. 2 - 2 (2010)
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. Pathogenetics 34.
Zeitschriftenartikel
2 (3), S. 2 - 2 (2010)
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylose KDM5C. Pathogenetics 35.
Zeitschriftenartikel
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. European Journal of Human Genetics (2010)
36.
Zeitschriftenartikel
85 (6), S. 909 - 915 (2009)
Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation. American Journal of Human Genetics 37.
Zeitschriftenartikel
149 (7), S. 1544 - 1549 (2009)
Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis. American Journal of Medical Genetics Part A 38.
Zeitschriftenartikel
21 (2), S. 231 - 236 (2009)
Genetik der nichtsyndromalen geistigen Behinderung. Medizinische Genetik 39.
Zeitschriftenartikel
32 (3), S. 226 - 230 (2009)
Hypergonadotropic hypogonadism in a patient with inv ins (2;4). International Journal of Andrology 40.
Zeitschriftenartikel
149 (4), S. 746 - 750 (2009)
Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome). American Journal of Medical Genetics Part A