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Nature Communications
|
July 8, 2022
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism
Vincent Michaud, Eulalie Lasseaux, David J Green, et al.
Optics Express
|
October 15, 2022
Optical time domain backscattering of antiresonant hollow core fibers
Radan Slavík, Eric R Numkam Fokoua, Thomas D Bradley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 3, 2021
Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al
Florence Riccardi, Alexandre Astier, Margot Grisval, et al.
Gene
|
November 7, 2024
A 65 kilobase deletion of the upstream TYR gene region in a family with oculocutaneous albinism type 1
Modibo Diallo, Alicia Defay-Stinat, Victor Gindensperger, et al.
The Journal of Investigative Dermatology
|
December 3, 2019
Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis
Fanny Morice-Picard, Vincent Michaud, Eulalie Lasseaux, et al.
Genes
|
December 23, 2022
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation
Ester Moreno-Artero, Fanny Morice-Picard, Eulalie Lasseaux, et al.
Journal of Dermatological Science
|
March 31, 2024
Proteome characterization of XPC-deficient melanocytes generated by CRISPR-Cas9 technology reveals alteration in the expression of several hundred proteins
Muriel Cario, Julie Scalia, Walid Mahfouf, et al.
Pigment Cell & Melanoma Research
|
August 31, 2023
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
Vincent Michaud, Angèle Sequeira, Elina Mercier, et al.
Investigative Ophthalmology & Visual Science
|
September 14, 2023
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center
Paul-Henri Seguy, Jean-François Korobelnik, Marie-Noëlle Delyfer, et al.
Pigment Cell & Melanoma Research
|
July 21, 2020
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome
Perrine Pennamen, Angèle Tingaud-Sequeira, Vincent Michaud, et al.
Page
of 9
Search research articles
Search
Showing results (41-50 of 84) with videos related to
Sort By:
Page
of 9
Nature Communications
|
July 8, 2022
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism
Vincent Michaud, Eulalie Lasseaux, David J Green, et al.
Optics Express
|
October 15, 2022
Optical time domain backscattering of antiresonant hollow core fibers
Radan Slavík, Eric R Numkam Fokoua, Thomas D Bradley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 3, 2021
Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al
Florence Riccardi, Alexandre Astier, Margot Grisval, et al.
Gene
|
November 7, 2024
A 65 kilobase deletion of the upstream TYR gene region in a family with oculocutaneous albinism type 1
Modibo Diallo, Alicia Defay-Stinat, Victor Gindensperger, et al.
The Journal of Investigative Dermatology
|
December 3, 2019
Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis
Fanny Morice-Picard, Vincent Michaud, Eulalie Lasseaux, et al.
Genes
|
December 23, 2022
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation
Ester Moreno-Artero, Fanny Morice-Picard, Eulalie Lasseaux, et al.
Journal of Dermatological Science
|
March 31, 2024
Proteome characterization of XPC-deficient melanocytes generated by CRISPR-Cas9 technology reveals alteration in the expression of several hundred proteins
Muriel Cario, Julie Scalia, Walid Mahfouf, et al.
Pigment Cell & Melanoma Research
|
August 31, 2023
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
Vincent Michaud, Angèle Sequeira, Elina Mercier, et al.
Investigative Ophthalmology & Visual Science
|
September 14, 2023
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center
Paul-Henri Seguy, Jean-François Korobelnik, Marie-Noëlle Delyfer, et al.
Pigment Cell & Melanoma Research
|
July 21, 2020
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome
Perrine Pennamen, Angèle Tingaud-Sequeira, Vincent Michaud, et al.
Page
of 9