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Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
April 23, 2026
Christine Fauth, Susanne Sprung, Martina Messner BSc, et al.
Fertility and Sterility
|
April 13, 2013
Single nucleotide polymorphism array analysis in men with idiopathic azoospermia or oligoasthenozoospermia syndrome
Anne Frühmesser, Peter H Vogt, Jutta Zimmer, et al.
Cancer Research
|
February 28, 2002
Targeted inactivation of p53 in human cells does not result in aneuploidy
Fred Bunz, Christine Fauth, Michael R Speicher, et al.
Stem Cell Research
|
April 22, 2022
Generation of the human induced pluripotent stem cell line (IBKMOLi002-A) from PBMCs of a patient carrying the heterozygous L271H mutation of the voltage-gated calcium channel subunit Ca<sub>v</sub>1.3-encoding CACNA1D gene
Marcel Tisch, María Carmen De Mingo Alemany, Marta Suarez-Cubero, et al.
American Journal of Medical Genetics. Part A
|
October 19, 2010
Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21)
Ana Spreiz, Doris Müller, Sibylle Zotter, et al.
American Journal of Medical Genetics. Part A
|
July 24, 2012
Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype
Anne Frühmesser, Edda Haberlandt, Werner Judmaier, et al.
American Journal of Human Genetics
|
December 14, 2011
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation
Johannes A Mayr, Franz A Zimmermann, Christine Fauth, et al.
European Journal of Medical Genetics
|
November 3, 2018
A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature
Iris Unterberger, Judith Dobesberger, Harald Schober, et al.
Frontiers in Genetics
|
July 28, 2025
Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool
Katarína Kušíková, Tzung-Chien Hsieh, Mateja Pfeifer, et al.
American Journal of Medical Genetics. Part A
|
September 17, 2013
Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3
Karl Hackmann, Anja Stadler, Jens Schallner, et al.
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Search research articles
Search
Showing results (21-30 of 61) with videos related to
Sort By:
Page
of 7
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
April 23, 2026
Christine Fauth, Susanne Sprung, Martina Messner BSc, et al.
Fertility and Sterility
|
April 13, 2013
Single nucleotide polymorphism array analysis in men with idiopathic azoospermia or oligoasthenozoospermia syndrome
Anne Frühmesser, Peter H Vogt, Jutta Zimmer, et al.
Cancer Research
|
February 28, 2002
Targeted inactivation of p53 in human cells does not result in aneuploidy
Fred Bunz, Christine Fauth, Michael R Speicher, et al.
Stem Cell Research
|
April 22, 2022
Generation of the human induced pluripotent stem cell line (IBKMOLi002-A) from PBMCs of a patient carrying the heterozygous L271H mutation of the voltage-gated calcium channel subunit Ca<sub>v</sub>1.3-encoding CACNA1D gene
Marcel Tisch, María Carmen De Mingo Alemany, Marta Suarez-Cubero, et al.
American Journal of Medical Genetics. Part A
|
October 19, 2010
Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21)
Ana Spreiz, Doris Müller, Sibylle Zotter, et al.
American Journal of Medical Genetics. Part A
|
July 24, 2012
Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype
Anne Frühmesser, Edda Haberlandt, Werner Judmaier, et al.
American Journal of Human Genetics
|
December 14, 2011
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation
Johannes A Mayr, Franz A Zimmermann, Christine Fauth, et al.
European Journal of Medical Genetics
|
November 3, 2018
A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature
Iris Unterberger, Judith Dobesberger, Harald Schober, et al.
Frontiers in Genetics
|
July 28, 2025
Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool
Katarína Kušíková, Tzung-Chien Hsieh, Mateja Pfeifer, et al.
American Journal of Medical Genetics. Part A
|
September 17, 2013
Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3
Karl Hackmann, Anja Stadler, Jens Schallner, et al.
Page
of 7