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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
March 13, 2024
Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment
Johanne Dubail, Sophie Rondeau, Caroline Michot, et al.
Acta Neuropathologica Communications
|
December 18, 2025
Biallelic null RAB3GAP1 variants impair cortical development and autophagy in Warburg Micro syndrome: evidence from fetal brain tissue and patient fibroblasts
Emma Noël, Fabien Guimiot, Yline Capri, et al.
European Journal of Human Genetics : EJHG
|
December 2, 2022
Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye
Bertrand Chesneau, Véronique Ivashchenko, Christophe Habib, et al.
Pediatric Surgery International
|
September 27, 2020
Mowat Wilson syndrome and Hirschsprung disease: a retrospective study on functional outcomes
Claire Dagorno, Luca Pio, Yline Capri, et al.
American Journal of Medical Genetics. Part A
|
August 7, 2013
COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome
Céline Dupont, Clarisse Baumann, Nathalie Le Du, et al.
Journal of Medical Genetics
|
April 20, 2023
Biallelic <i>NPR1</i> loss of function variants are responsible for neonatal systemic hypertension
Yline Capri, Theresa Kwon, Olivia Boyer, et al.
European Journal of Medical Genetics
|
July 20, 2021
Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome
Nina-Maria Wilpert, Florent Marguet, Camille Maillard, et al.
Prenatal Diagnosis
|
March 12, 2022
Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data
Audrey Lamouroux, Coralie Dauge, Constance Wells, et al.
Molecular Syndromology
|
August 25, 2018
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in <i>EFEMP2</i>
Pascaline Letard, Dorien Schepers, Juliette Albuisson, 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.
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Search research articles
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Showing results (11-20 of 93) with videos related to
Sort By:
Page
of 10
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
March 13, 2024
Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment
Johanne Dubail, Sophie Rondeau, Caroline Michot, et al.
Acta Neuropathologica Communications
|
December 18, 2025
Biallelic null RAB3GAP1 variants impair cortical development and autophagy in Warburg Micro syndrome: evidence from fetal brain tissue and patient fibroblasts
Emma Noël, Fabien Guimiot, Yline Capri, et al.
European Journal of Human Genetics : EJHG
|
December 2, 2022
Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye
Bertrand Chesneau, Véronique Ivashchenko, Christophe Habib, et al.
Pediatric Surgery International
|
September 27, 2020
Mowat Wilson syndrome and Hirschsprung disease: a retrospective study on functional outcomes
Claire Dagorno, Luca Pio, Yline Capri, et al.
American Journal of Medical Genetics. Part A
|
August 7, 2013
COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome
Céline Dupont, Clarisse Baumann, Nathalie Le Du, et al.
Journal of Medical Genetics
|
April 20, 2023
Biallelic <i>NPR1</i> loss of function variants are responsible for neonatal systemic hypertension
Yline Capri, Theresa Kwon, Olivia Boyer, et al.
European Journal of Medical Genetics
|
July 20, 2021
Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome
Nina-Maria Wilpert, Florent Marguet, Camille Maillard, et al.
Prenatal Diagnosis
|
March 12, 2022
Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data
Audrey Lamouroux, Coralie Dauge, Constance Wells, et al.
Molecular Syndromology
|
August 25, 2018
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in <i>EFEMP2</i>
Pascaline Letard, Dorien Schepers, Juliette Albuisson, 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 10