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Christiane Zweier

Showing results (11-20 of 164) with videos related to

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American Journal of Human Genetics|February 3, 2007
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletionsChristiane Zweier, Heinrich Sticht, Inci Aydin-Yaylagül, et al.
European Journal of Medical Genetics|August 20, 2025
A fetal case of Stüve-Wiedemann syndrome due to a novel homozygous truncating variant in IL6STDominique Braun, Sofia Amylidi-Mohr, Olaf Ahrens, et al.
American Journal of Medical Genetics. Part A|September 5, 2020
7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorderMelissa Rieger, Mandy Krumbiegel, Miriam S Reuter, et al.
Scientific Reports|November 5, 2020
Loss of PHF6 leads to aberrant development of human neuron-like cellsAnna Fliedner, Anne Gregor, Fulvia Ferrazzi, et al.
European Journal of Medical Genetics|February 22, 2011
Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short statureAndreas Busche, Luitgard M Graul-Neumann, Christiane Zweier, et al.
European Journal of Dermatology : EJD|June 16, 2020
Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformationsDariush Skowronek, Moritz Hebebrand, Ramona Erber, et al.
Frontiers in Neurology|October 17, 2024
Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in <i>CACNA1A</i>Dilbar Mammadova, Cornelia Kraus, Thomas Leis, et al.
Journal of Nephrology|April 22, 2026
Natural history of patients with familial focal segmental glomerulosclerosis associated with TRPC6 variantsHeidi Sarrasin, Daniel Sidler, Deborah Bartholdi, et al.
American Journal of Medical Genetics. Part A|November 20, 2018
Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85LeuCornelia Kraus, Steffen Uebe, Christian T Thiel, et al.
American Journal of Medical Genetics. Part A|May 26, 2017
Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairmentMiriam S Reuter, Mandy Krumbiegel, Gregor Schlüter, et al.
Pageof 17

Showing results (11-20 of 164) with videos related to

Sort By:
Pageof 17
American Journal of Human Genetics|February 3, 2007
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletionsChristiane Zweier, Heinrich Sticht, Inci Aydin-Yaylagül, et al.
European Journal of Medical Genetics|August 20, 2025
A fetal case of Stüve-Wiedemann syndrome due to a novel homozygous truncating variant in IL6STDominique Braun, Sofia Amylidi-Mohr, Olaf Ahrens, et al.
American Journal of Medical Genetics. Part A|September 5, 2020
7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorderMelissa Rieger, Mandy Krumbiegel, Miriam S Reuter, et al.
Scientific Reports|November 5, 2020
Loss of PHF6 leads to aberrant development of human neuron-like cellsAnna Fliedner, Anne Gregor, Fulvia Ferrazzi, et al.
European Journal of Medical Genetics|February 22, 2011
Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short statureAndreas Busche, Luitgard M Graul-Neumann, Christiane Zweier, et al.
European Journal of Dermatology : EJD|June 16, 2020
Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformationsDariush Skowronek, Moritz Hebebrand, Ramona Erber, et al.
Frontiers in Neurology|October 17, 2024
Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in <i>CACNA1A</i>Dilbar Mammadova, Cornelia Kraus, Thomas Leis, et al.
Journal of Nephrology|April 22, 2026
Natural history of patients with familial focal segmental glomerulosclerosis associated with TRPC6 variantsHeidi Sarrasin, Daniel Sidler, Deborah Bartholdi, et al.
American Journal of Medical Genetics. Part A|November 20, 2018
Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85LeuCornelia Kraus, Steffen Uebe, Christian T Thiel, et al.
American Journal of Medical Genetics. Part A|May 26, 2017
Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairmentMiriam S Reuter, Mandy Krumbiegel, Gregor Schlüter, et al.
Pageof 17