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Ariane Schmetz

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Seminars in Fetal & Neonatal Medicine|September 25, 2021
Genetics of craniofacial malformationsAriane Schmetz, Jeanne Amiel, Dagmar Wieczorek
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 10, 2024
Adult syndromology: challenges, opportunities and perspectives: <i>Illustrated by the description of four adults with Costello syndrome</i>Ariane Schmetz, Maria Juliana Ballesta-Martínez, Bertrand Isidor, et al.
Genes|March 29, 2023
<i>FGF9</i>-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational FamilyAriane Schmetz, Jörg Schaper, Simon Thelen, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG|June 17, 2022
Phänotypische Vielfalt bei Varianten im TP63-GenAriane Schmetz, Xing Xiong, Nicole Cesarato, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG|May 20, 2022
Phenotype diversity associated with TP63 mutationsAriane Schmetz, Xing Xiong, Nicole Cesarato, et al.
European Journal of Human Genetics : EJHG|March 21, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approachesSilvestre Cuinat, Nicolas Chatron, Florence Petit, et al.
International Journal of Cancer|September 1, 2021
Adenoma and colorectal cancer risks in Lynch syndrome, Lynch-like syndrome and familial colorectal cancer type XKarolin Bucksch, Silke Zachariae, Aysel Ahadova, et al.
Frontiers in Cell and Developmental Biology|February 2, 2023
<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individualsAntje Kampmeier, Elsa Leitão, Ilaria Parenti, et al.
European Journal of Human Genetics : EJHG|July 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delaysMythily Ganapathi, Leticia S Matsuoka, Michael March, et al.
Human Genetics|December 20, 2023
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individualsAriane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
Seminars in Fetal & Neonatal Medicine|September 25, 2021
Genetics of craniofacial malformationsAriane Schmetz, Jeanne Amiel, Dagmar Wieczorek
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 10, 2024
Adult syndromology: challenges, opportunities and perspectives: <i>Illustrated by the description of four adults with Costello syndrome</i>Ariane Schmetz, Maria Juliana Ballesta-Martínez, Bertrand Isidor, et al.
Genes|March 29, 2023
<i>FGF9</i>-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational FamilyAriane Schmetz, Jörg Schaper, Simon Thelen, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG|June 17, 2022
Phänotypische Vielfalt bei Varianten im TP63-GenAriane Schmetz, Xing Xiong, Nicole Cesarato, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG|May 20, 2022
Phenotype diversity associated with TP63 mutationsAriane Schmetz, Xing Xiong, Nicole Cesarato, et al.
European Journal of Human Genetics : EJHG|March 21, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approachesSilvestre Cuinat, Nicolas Chatron, Florence Petit, et al.
International Journal of Cancer|September 1, 2021
Adenoma and colorectal cancer risks in Lynch syndrome, Lynch-like syndrome and familial colorectal cancer type XKarolin Bucksch, Silke Zachariae, Aysel Ahadova, et al.
Frontiers in Cell and Developmental Biology|February 2, 2023
<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individualsAntje Kampmeier, Elsa Leitão, Ilaria Parenti, et al.
European Journal of Human Genetics : EJHG|July 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delaysMythily Ganapathi, Leticia S Matsuoka, Michael March, et al.
Human Genetics|December 20, 2023
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individualsAriane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, et al.
Pageof 2