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Christiane Zweier

Showing results (91-100 of 164) with videos related to

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BMC Medical Genetics|August 11, 2011
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1Anne Gregor, Beate Albrecht, Ingrid Bader, et al.
American Journal of Human Genetics|April 17, 2007
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)Christiane Zweier, Maarit M Peippo, Juliane Hoyer, et al.
Human Genetics|March 12, 2014
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutationsLina Basel-Vanagaite, Rüstem Yilmaz, Sha Tang, et al.
European Journal of Medical Genetics|March 7, 2024
Penetrance, variable expressivity and monogenic neurodevelopmental disordersServane de Masfrand, Benjamin Cogné, Mathilde Nizon, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlationsJillian M Cameron, Snezana Maljevic, Umesh Nair, et al.
Journal of Medical Genetics|November 3, 2022
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting <i>FOXP2</i>Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2018
Clinical relevance of systematic phenotyping and exome sequencing in patients with short statureNadine N Hauer, Bernt Popp, Eva Schoeller, et al.
Journal of Medical Genetics|June 26, 2007
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndromeMartin Zenker, Denise Horn, Dagmar Wieczorek, et al.
European Journal of Human Genetics : EJHG|February 28, 2019
Evolutionary conserved networks of human height identify multiple Mendelian causes of short statureNadine N Hauer, Bernt Popp, Leila Taher, et al.
European Journal of Human Genetics : EJHG|August 21, 2014
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndromeAlma Kuechler, Alexander M Zink, Thomas Wieland, et al.
Pageof 17

Showing results (91-100 of 164) with videos related to

Sort By:
Pageof 17
BMC Medical Genetics|August 11, 2011
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1Anne Gregor, Beate Albrecht, Ingrid Bader, et al.
American Journal of Human Genetics|April 17, 2007
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)Christiane Zweier, Maarit M Peippo, Juliane Hoyer, et al.
Human Genetics|March 12, 2014
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutationsLina Basel-Vanagaite, Rüstem Yilmaz, Sha Tang, et al.
European Journal of Medical Genetics|March 7, 2024
Penetrance, variable expressivity and monogenic neurodevelopmental disordersServane de Masfrand, Benjamin Cogné, Mathilde Nizon, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlationsJillian M Cameron, Snezana Maljevic, Umesh Nair, et al.
Journal of Medical Genetics|November 3, 2022
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting <i>FOXP2</i>Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2018
Clinical relevance of systematic phenotyping and exome sequencing in patients with short statureNadine N Hauer, Bernt Popp, Eva Schoeller, et al.
Journal of Medical Genetics|June 26, 2007
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndromeMartin Zenker, Denise Horn, Dagmar Wieczorek, et al.
European Journal of Human Genetics : EJHG|February 28, 2019
Evolutionary conserved networks of human height identify multiple Mendelian causes of short statureNadine N Hauer, Bernt Popp, Leila Taher, et al.
European Journal of Human Genetics : EJHG|August 21, 2014
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndromeAlma Kuechler, Alexander M Zink, Thomas Wieland, et al.
Pageof 17