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Christiane Zweier

Showing results (21-30 of 164) with videos related to

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American Journal of Medical Genetics. Part A|April 23, 2025
De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson SyndromeDominique Braun, Anne Gregor, Monika Haubitz, et al.
American Journal of Medical Genetics. Part A|June 15, 2007
Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndromeSibylle Strenge, Wolfram Heinritz, Christiane Zweier, et al.
American Journal of Medical Genetics. Part A|September 9, 2020
A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsyBurkhard S Kasper, Cornelia Kraus, Michael Schwarz, et al.
Human Molecular Genetics|January 24, 2025
Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathyFranziska Langhammer, Anne Gregor, Niels R Ntamati, et al.
American Journal of Medical Genetics. Part A|May 12, 2006
A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotypeWolfram Heinritz, Christiane Zweier, Ursula G Froster, et al.
Epilepsy & Behavior : E&B|February 27, 2017
Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndromeBurkhard S Kasper, Arnd Dörfler, Nataliya Di Donato, et al.
European Journal of Medical Genetics|September 11, 2016
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1Bernt Popp, Regina Trollmann, Christian Büttner, et al.
Genetics Research|October 7, 2015
A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesisZehra Agha, Zafar Iqbal, Tjitske Kleefstra, et al.
European Journal of Human Genetics : EJHG|November 22, 2017
Exome Pool-Seq in neurodevelopmental disordersBernt Popp, Arif B Ekici, Christian T Thiel, et al.
The Application of Clinical Genetics|September 15, 2021
Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in <i>MAP2K1</i> - Case StudyBożena Kosztyła-Hojna, Jan Borys, Maciej Zdrojkowski, et al.
Pageof 17

Showing results (21-30 of 164) with videos related to

Sort By:
Pageof 17
American Journal of Medical Genetics. Part A|April 23, 2025
De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson SyndromeDominique Braun, Anne Gregor, Monika Haubitz, et al.
American Journal of Medical Genetics. Part A|June 15, 2007
Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndromeSibylle Strenge, Wolfram Heinritz, Christiane Zweier, et al.
American Journal of Medical Genetics. Part A|September 9, 2020
A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsyBurkhard S Kasper, Cornelia Kraus, Michael Schwarz, et al.
Human Molecular Genetics|January 24, 2025
Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathyFranziska Langhammer, Anne Gregor, Niels R Ntamati, et al.
American Journal of Medical Genetics. Part A|May 12, 2006
A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotypeWolfram Heinritz, Christiane Zweier, Ursula G Froster, et al.
Epilepsy & Behavior : E&B|February 27, 2017
Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndromeBurkhard S Kasper, Arnd Dörfler, Nataliya Di Donato, et al.
European Journal of Medical Genetics|September 11, 2016
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1Bernt Popp, Regina Trollmann, Christian Büttner, et al.
Genetics Research|October 7, 2015
A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesisZehra Agha, Zafar Iqbal, Tjitske Kleefstra, et al.
European Journal of Human Genetics : EJHG|November 22, 2017
Exome Pool-Seq in neurodevelopmental disordersBernt Popp, Arif B Ekici, Christian T Thiel, et al.
The Application of Clinical Genetics|September 15, 2021
Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in <i>MAP2K1</i> - Case StudyBożena Kosztyła-Hojna, Jan Borys, Maciej Zdrojkowski, et al.
Pageof 17