Smaïl Hadj-Rabia - JoVE Visualize

Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Policies

Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Policies

Filters

Smaïl Hadj-Rabia

Showing results (21-30 of 25) with videos related to

Pageof 3

Sort By:

You have reached the last page of results.This site can display upto 25 results.

Human Mutation|January 15, 2013

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2Dorothea Bornholdt, T Prescott Atkinson, Bakar Bouadjar, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV|April 10, 2024

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patientsDidier Bessis, Anne-Claire Bursztejn, Fanny Morice-Picard, et al.

American Journal of Human Genetics|January 3, 2012

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, et al.

Orphanet Journal of Rare Diseases|March 12, 2025

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort studyIphigénie Cavadias, Magali Viaud, Marie Falampin, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testingPaul Kuentz, Judith St-Onge, Yannis Duffourd, et al.

Pageof 3

Search research articles

Showing results (21-30 of 25) with videos related to

Sort By:

Pageof 3

You have reached the last page of results.This site can display upto 25 results.

Human Mutation|January 15, 2013

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2Dorothea Bornholdt, T Prescott Atkinson, Bakar Bouadjar, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV|April 10, 2024

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patientsDidier Bessis, Anne-Claire Bursztejn, Fanny Morice-Picard, et al.

American Journal of Human Genetics|January 3, 2012

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, et al.

Orphanet Journal of Rare Diseases|March 12, 2025

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort studyIphigénie Cavadias, Magali Viaud, Marie Falampin, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testingPaul Kuentz, Judith St-Onge, Yannis Duffourd, et al.

Pageof 3