Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Martin A Mensah

Showing results (1-10 of 22) with videos related to

Pageof 3
Sort By:
Molecular Syndromology|June 15, 2017
Mutation c.943G>T (p.Ala315Ser) in <i>FGFR2</i> Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation FamilyLuitgard M Graul-Neumann, Eva Klopocki, Nicolai Adolphs, et al.
Oral Diseases|December 9, 2023
Whole genome sequencing in families with oligodontiaJanna Mitscherling, Henrike L Sczakiel, Olga Kiskemper-Nestorjuk, et al.
American Journal of Medical Genetics. Part A|March 22, 2024
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variantSarina Schwartzmann, Max Zhao, Henrike Lisa Sczakiel, et al.
European Journal of Human Genetics : EJHG|May 16, 2018
Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblingsSolveig Schulz, Martin A Mensah, Heike de Vries, et al.
Clinical Genetics|January 18, 2025
Haplotype Phasing of Biallelic WNT10B Variants Using Long-Read Sequencing in Split-Hand/Foot Malformation SyndromeJelena Pozojevic, Naseebullah Kakar, Henrike L Sczakiel, et al.
Journal of Human Genetics|January 31, 2022
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)Felix Boschann, Daniel Acero Moreno, Martin A Mensah, et al.
European Journal of Human Genetics : EJHG|November 8, 2021
Combining callers improves the detection of copy number variants from whole-genome sequencingMarie Coutelier, Manuel Holtgrewe, Marten Jäger, et al.
European Journal of Medical Genetics|February 7, 2018
Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndromeLuitgard M Graul-Neumann, Martin A Mensah, Eva Klopocki, et al.
Journal of Inherited Metabolic Disease|April 7, 2018
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolismJean T Pantel, Max Zhao, Martin A Mensah, et al.
European Journal of Human Genetics : EJHG|July 20, 2019
Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblingsMagdalena Danyel, Zhuo Cheng, Christine Jung, et al.
Pageof 3

Showing results (1-10 of 22) with videos related to

Sort By:
Pageof 3
Molecular Syndromology|June 15, 2017
Mutation c.943G>T (p.Ala315Ser) in <i>FGFR2</i> Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation FamilyLuitgard M Graul-Neumann, Eva Klopocki, Nicolai Adolphs, et al.
Oral Diseases|December 9, 2023
Whole genome sequencing in families with oligodontiaJanna Mitscherling, Henrike L Sczakiel, Olga Kiskemper-Nestorjuk, et al.
American Journal of Medical Genetics. Part A|March 22, 2024
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variantSarina Schwartzmann, Max Zhao, Henrike Lisa Sczakiel, et al.
European Journal of Human Genetics : EJHG|May 16, 2018
Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblingsSolveig Schulz, Martin A Mensah, Heike de Vries, et al.
Clinical Genetics|January 18, 2025
Haplotype Phasing of Biallelic WNT10B Variants Using Long-Read Sequencing in Split-Hand/Foot Malformation SyndromeJelena Pozojevic, Naseebullah Kakar, Henrike L Sczakiel, et al.
Journal of Human Genetics|January 31, 2022
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)Felix Boschann, Daniel Acero Moreno, Martin A Mensah, et al.
European Journal of Human Genetics : EJHG|November 8, 2021
Combining callers improves the detection of copy number variants from whole-genome sequencingMarie Coutelier, Manuel Holtgrewe, Marten Jäger, et al.
European Journal of Medical Genetics|February 7, 2018
Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndromeLuitgard M Graul-Neumann, Martin A Mensah, Eva Klopocki, et al.
Journal of Inherited Metabolic Disease|April 7, 2018
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolismJean T Pantel, Max Zhao, Martin A Mensah, et al.
European Journal of Human Genetics : EJHG|July 20, 2019
Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblingsMagdalena Danyel, Zhuo Cheng, Christine Jung, et al.
Pageof 3