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Gabriele Richard

Showing results (61-70 of 83) with videos related to

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The Journal of Investigative Dermatology|January 29, 2005
LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosumAkemi Ishida-Yamamoto, Céline Deraison, Chrystelle Bonnart, et al.
The Journal of Investigative Dermatology|March 22, 2003
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlationsGabriele Richard, Nkecha Brown, Fatima Rouan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 18, 2019
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variantsTracy Brandt, Laura M Sack, Dolores Arjona, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 20, 2019
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variantsTracy Brandt, Laura M Sack, Dolores Arjona, et al.
The Journal of Investigative Dermatology|January 8, 2004
A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafnessChester W Brown, Moise L Levy, Catherine M Flaitz, et al.
Human Genetics|February 16, 2026
Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomesVincent D Ustach, Maria J Guillen Sacoto, Stephen McGee, et al.
Human Mutation|July 23, 2022
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing lossRobert Chen, Maria Alejandra Diaz-Miranda, Erfan Aref-Eshghi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2021
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humansRenkui Bai, Hong Cui, Joseph M Devaney, et al.
The Journal of Investigative Dermatology|January 28, 2006
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern populationJudeh Abu Sa'd, Margarita Indelman, Ellen Pfendner, et al.
American Journal of Medical Genetics. Part A|March 29, 2019
Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experienceNader Al-Dewik, Howaida Mohd, Mariam Al-Mureikhi, et al.
Pageof 9

Showing results (61-70 of 83) with videos related to

Sort By:
Pageof 9
The Journal of Investigative Dermatology|January 29, 2005
LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosumAkemi Ishida-Yamamoto, Céline Deraison, Chrystelle Bonnart, et al.
The Journal of Investigative Dermatology|March 22, 2003
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlationsGabriele Richard, Nkecha Brown, Fatima Rouan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 18, 2019
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variantsTracy Brandt, Laura M Sack, Dolores Arjona, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 20, 2019
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variantsTracy Brandt, Laura M Sack, Dolores Arjona, et al.
The Journal of Investigative Dermatology|January 8, 2004
A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafnessChester W Brown, Moise L Levy, Catherine M Flaitz, et al.
Human Genetics|February 16, 2026
Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomesVincent D Ustach, Maria J Guillen Sacoto, Stephen McGee, et al.
Human Mutation|July 23, 2022
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing lossRobert Chen, Maria Alejandra Diaz-Miranda, Erfan Aref-Eshghi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2021
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humansRenkui Bai, Hong Cui, Joseph M Devaney, et al.
The Journal of Investigative Dermatology|January 28, 2006
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern populationJudeh Abu Sa'd, Margarita Indelman, Ellen Pfendner, et al.
American Journal of Medical Genetics. Part A|March 29, 2019
Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experienceNader Al-Dewik, Howaida Mohd, Mariam Al-Mureikhi, et al.
Pageof 9