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Journal of Medical Genetics
|
July 13, 2002
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
O Bartsch, K Locher, P Meinecke, et al.
Human Genetics
|
September 1, 1993
Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome
O Bartsch, U König, M B Petersen, et al.
Journal of Medical Genetics
|
July 1, 1994
"Compensatory" uniparental disomy of chromosome 21 in two cases
O Bartsch, M B Petersen, I Stuhlmann, et al.
Biological Chemistry Hoppe-Seyler
|
May 1, 1988
Chemical synthesis of a gene for human cystatin C and its expression in E. coli
M Strauss, F O Bartsch, J Stollwerk, et al.
Cancer Genetics and Cytogenetics
|
February 1, 1996
Derivative (6)t(1;6)(q22;p21) revealed in bone marrow cells by FISH 9 months before diagnosis of acute T-lymphoblastic leukemia
K Michalová, P Lemez, O Bartsch, et al.
Cytogenetic and Genome Research
|
September 10, 2009
Haploinsufficiency of 16.4 Mb from chromosome 22pter-q11.21 in a girl with unilateral conductive hearing loss
N Damatova, V Beyer, D Galetzka, et al.
Audiology & Neuro-Otology
|
March 18, 2010
GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods
O Bartsch, A Vatter, U Zechner, et al.
European Journal of Human Genetics : EJHG
|
November 26, 1999
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
O Bartsch, A Wagner, G K Hinkel, et al.
Cytogenetic and Genome Research
|
December 28, 2007
Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis
O Bartsch, Z Vlcková, F Erdogan, et al.
Molecular Syndromology
|
January 18, 2013
Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects
O Bartsch, I Kirmes, A Thiede, et al.
Page
of 7
Search research articles
Search
Showing results (51-60 of 65) with videos related to
Sort By:
Page
of 7
Journal of Medical Genetics
|
July 13, 2002
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
O Bartsch, K Locher, P Meinecke, et al.
Human Genetics
|
September 1, 1993
Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome
O Bartsch, U König, M B Petersen, et al.
Journal of Medical Genetics
|
July 1, 1994
"Compensatory" uniparental disomy of chromosome 21 in two cases
O Bartsch, M B Petersen, I Stuhlmann, et al.
Biological Chemistry Hoppe-Seyler
|
May 1, 1988
Chemical synthesis of a gene for human cystatin C and its expression in E. coli
M Strauss, F O Bartsch, J Stollwerk, et al.
Cancer Genetics and Cytogenetics
|
February 1, 1996
Derivative (6)t(1;6)(q22;p21) revealed in bone marrow cells by FISH 9 months before diagnosis of acute T-lymphoblastic leukemia
K Michalová, P Lemez, O Bartsch, et al.
Cytogenetic and Genome Research
|
September 10, 2009
Haploinsufficiency of 16.4 Mb from chromosome 22pter-q11.21 in a girl with unilateral conductive hearing loss
N Damatova, V Beyer, D Galetzka, et al.
Audiology & Neuro-Otology
|
March 18, 2010
GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods
O Bartsch, A Vatter, U Zechner, et al.
European Journal of Human Genetics : EJHG
|
November 26, 1999
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
O Bartsch, A Wagner, G K Hinkel, et al.
Cytogenetic and Genome Research
|
December 28, 2007
Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis
O Bartsch, Z Vlcková, F Erdogan, et al.
Molecular Syndromology
|
January 18, 2013
Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects
O Bartsch, I Kirmes, A Thiede, et al.
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of 7