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European Journal of Human Genetics : EJHG
|
August 9, 2018
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
Melodie Aubart, Steven Gazal, Pauline Arnaud, et al.
International Journal of Molecular Sciences
|
October 16, 2024
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients
Kévin Muret, Vincent Le Goff, Claire Dandine-Roulland, et al.
Molecular Biology and Evolution
|
August 12, 2021
Papua New Guinean Genomes Reveal the Complex Settlement of North Sahul
Nicolas Brucato, Mathilde André, Roxanne Tsang, et al.
Biomedicines
|
March 6, 2021
The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD
Elena Gargaun, Sestina Falcone, Guilhem Solé, et al.
European Journal of Human Genetics : EJHG
|
January 20, 2012
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations
Stephan Klebe, Alexander Lossos, Hamid Azzedine, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2017
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation
Kevin Yauy, Frederic Tran Mau-Them, Marjolaine Willems, et al.
European Journal of Human Genetics : EJHG
|
July 10, 2019
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group
Camille Lemattre, Marion Imbert-Bouteille, Vincent Gatinois, et al.
Nature Communications
|
December 12, 2018
Cyclin A2/E1 activation defines a hepatocellular carcinoma subclass with a rearrangement signature of replication stress
Quentin Bayard, Léa Meunier, Camille Peneau, et al.
Plos Genetics
|
August 29, 2012
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome
Naresh Kumar Hanchate, Paolo Giacobini, Pierre Lhuillier, et al.
Neurology
|
April 3, 2016
ABCA7 rare variants and Alzheimer disease risk
Kilan Le Guennec, Gaël Nicolas, Olivier Quenez, et al.
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of 6
Search research articles
Search
Showing results (31-40 of 55) with videos related to
Sort By:
Page
of 6
European Journal of Human Genetics : EJHG
|
August 9, 2018
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
Melodie Aubart, Steven Gazal, Pauline Arnaud, et al.
International Journal of Molecular Sciences
|
October 16, 2024
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients
Kévin Muret, Vincent Le Goff, Claire Dandine-Roulland, et al.
Molecular Biology and Evolution
|
August 12, 2021
Papua New Guinean Genomes Reveal the Complex Settlement of North Sahul
Nicolas Brucato, Mathilde André, Roxanne Tsang, et al.
Biomedicines
|
March 6, 2021
The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD
Elena Gargaun, Sestina Falcone, Guilhem Solé, et al.
European Journal of Human Genetics : EJHG
|
January 20, 2012
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations
Stephan Klebe, Alexander Lossos, Hamid Azzedine, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2017
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation
Kevin Yauy, Frederic Tran Mau-Them, Marjolaine Willems, et al.
European Journal of Human Genetics : EJHG
|
July 10, 2019
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group
Camille Lemattre, Marion Imbert-Bouteille, Vincent Gatinois, et al.
Nature Communications
|
December 12, 2018
Cyclin A2/E1 activation defines a hepatocellular carcinoma subclass with a rearrangement signature of replication stress
Quentin Bayard, Léa Meunier, Camille Peneau, et al.
Plos Genetics
|
August 29, 2012
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome
Naresh Kumar Hanchate, Paolo Giacobini, Pierre Lhuillier, et al.
Neurology
|
April 3, 2016
ABCA7 rare variants and Alzheimer disease risk
Kilan Le Guennec, Gaël Nicolas, Olivier Quenez, et al.
Page
of 6