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Clinical Genetics
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January 7, 2011
Twenty-five novel mutations including duplications in the ATP7A gene
M-P Moizard, N Ronce, S Blesson, et al.
EJNMMI Research
|
November 25, 2023
Assessment of hypoxia and oxidative-related changes in a lung-derived brain metastasis model by [<sup>64</sup>Cu][Cu(ATSM)] PET and proteomic studies
Jade Fantin, Jérôme Toutain, Elodie A Pérès, et al.
Clinical Genetics
|
January 12, 2019
Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations
Julien Van-Gils, Sophie Naudion, Jérôme Toutain, et al.
Genes
|
May 27, 2026
<i>COCH</i>-Related Hearing Loss in a French Cohort: Novel Variants and Genotype-Phenotype Correlations
Ralyath Balogoun, Margaux Serey-Gaut, Véronique Pingault, et al.
Journal of Clinical Microbiology
|
November 2, 2012
Global phylogeny of Shigella sonnei strains from limited single nucleotide polymorphisms (SNPs) and development of a rapid and cost-effective SNP-typing scheme for strain identification by high-resolution melting analysis
Vartul Sangal, Kathryn E Holt, Jianfeng Yuan, et al.
American Journal of Medical Genetics. Part A
|
July 19, 2012
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia
Livia Garavelli, Giancarlo Gargano, Graziella Simonte, et al.
Chemosphere
|
January 18, 2019
Is bisphenol S a safer alternative to bisphenol A in terms of potential fetal exposure ? Placental transfer across the perfused human placenta
Flore C Grandin, Marlène Z Lacroix, Véronique Gayrard, et al.
Human Mutation
|
September 14, 2006
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling
Valérie Pelletier, Marguerite Jambou, Nathalie Delphin, et al.
The Journal of Biological Chemistry
|
August 28, 2014
Nucleoside triphosphate diphosphohydrolase-1 ectonucleotidase is required for normal vas deferens contraction and male fertility through maintaining P2X1 receptor function
Gilles Kauffenstein, Julie Pelletier, Elise G Lavoie, et al.
Biomaterials
|
August 3, 2020
Nanosized zeolites as a gas delivery platform in a glioblastoma model
Clément Anfray, Sarah Komaty, Aurélien Corroyer-Dulmont, et al.
Page
of 89
Search research articles
Search
Showing results (681-690 of 885) with videos related to
Sort By:
Page
of 89
Clinical Genetics
|
January 7, 2011
Twenty-five novel mutations including duplications in the ATP7A gene
M-P Moizard, N Ronce, S Blesson, et al.
EJNMMI Research
|
November 25, 2023
Assessment of hypoxia and oxidative-related changes in a lung-derived brain metastasis model by [<sup>64</sup>Cu][Cu(ATSM)] PET and proteomic studies
Jade Fantin, Jérôme Toutain, Elodie A Pérès, et al.
Clinical Genetics
|
January 12, 2019
Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations
Julien Van-Gils, Sophie Naudion, Jérôme Toutain, et al.
Genes
|
May 27, 2026
<i>COCH</i>-Related Hearing Loss in a French Cohort: Novel Variants and Genotype-Phenotype Correlations
Ralyath Balogoun, Margaux Serey-Gaut, Véronique Pingault, et al.
Journal of Clinical Microbiology
|
November 2, 2012
Global phylogeny of Shigella sonnei strains from limited single nucleotide polymorphisms (SNPs) and development of a rapid and cost-effective SNP-typing scheme for strain identification by high-resolution melting analysis
Vartul Sangal, Kathryn E Holt, Jianfeng Yuan, et al.
American Journal of Medical Genetics. Part A
|
July 19, 2012
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia
Livia Garavelli, Giancarlo Gargano, Graziella Simonte, et al.
Chemosphere
|
January 18, 2019
Is bisphenol S a safer alternative to bisphenol A in terms of potential fetal exposure ? Placental transfer across the perfused human placenta
Flore C Grandin, Marlène Z Lacroix, Véronique Gayrard, et al.
Human Mutation
|
September 14, 2006
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling
Valérie Pelletier, Marguerite Jambou, Nathalie Delphin, et al.
The Journal of Biological Chemistry
|
August 28, 2014
Nucleoside triphosphate diphosphohydrolase-1 ectonucleotidase is required for normal vas deferens contraction and male fertility through maintaining P2X1 receptor function
Gilles Kauffenstein, Julie Pelletier, Elise G Lavoie, et al.
Biomaterials
|
August 3, 2020
Nanosized zeolites as a gas delivery platform in a glioblastoma model
Clément Anfray, Sarah Komaty, Aurélien Corroyer-Dulmont, et al.
Page
of 89