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Alban Ziegler

Showing results (11-20 of 82) with videos related to

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Neurogenetics|March 7, 2021
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variantIvana Dzinovic, Tereza Serranová, Clement Prouteau, et al.
American Journal of Medical Genetics. Part A|March 14, 2022
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measuresRebecca Fenster, Alban Ziegler, Catherine Kentros, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|July 26, 2017
Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?Alban Ziegler, Natalie Loundon, Laurence Jonard, et al.
Neurogenetics|December 3, 2021
Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variantIvana Dzinovic, Tereza Serranová, Clement Prouteau, et al.
Frontiers in Neurology|November 29, 2023
Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type IAudrey Pontrucher, Magalie Barth, Alban Ziegler, et al.
Clinical Genetics|July 11, 2019
Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disabilityAlban Ziegler, Patricia Bader, Kirsty McWalter, et al.
The British Journal of Dermatology|May 5, 2023
Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase αAlban Ziegler, Frédéric Ebstein, Hanan Shamseldin, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|September 13, 2019
Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signsClara Houdayer, Alban Ziegler, Françoise Boussion, et al.
European Journal of Endocrinology|April 5, 2024
Heterozygous gain of function variant in GUCY1A2 may cause autonomous ovarian hyperfunctionTheresa Wittrien, Alban Ziegler, Anne Rühle, et al.
Human Molecular Genetics|February 23, 2023
Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failureLiping Huang, Zhongyue Yang, Catherine P Kirschke, et al.
Pageof 9

Showing results (11-20 of 82) with videos related to

Sort By:
Pageof 9
Neurogenetics|March 7, 2021
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variantIvana Dzinovic, Tereza Serranová, Clement Prouteau, et al.
American Journal of Medical Genetics. Part A|March 14, 2022
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measuresRebecca Fenster, Alban Ziegler, Catherine Kentros, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|July 26, 2017
Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?Alban Ziegler, Natalie Loundon, Laurence Jonard, et al.
Neurogenetics|December 3, 2021
Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variantIvana Dzinovic, Tereza Serranová, Clement Prouteau, et al.
Frontiers in Neurology|November 29, 2023
Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type IAudrey Pontrucher, Magalie Barth, Alban Ziegler, et al.
Clinical Genetics|July 11, 2019
Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disabilityAlban Ziegler, Patricia Bader, Kirsty McWalter, et al.
The British Journal of Dermatology|May 5, 2023
Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase αAlban Ziegler, Frédéric Ebstein, Hanan Shamseldin, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|September 13, 2019
Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signsClara Houdayer, Alban Ziegler, Françoise Boussion, et al.
European Journal of Endocrinology|April 5, 2024
Heterozygous gain of function variant in GUCY1A2 may cause autonomous ovarian hyperfunctionTheresa Wittrien, Alban Ziegler, Anne Rühle, et al.
Human Molecular Genetics|February 23, 2023
Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failureLiping Huang, Zhongyue Yang, Catherine P Kirschke, et al.
Pageof 9