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Prenatal Diagnosis
|
May 21, 2019
Comment on "Trisomy 21 noninvasive prenatal testing for twin pregnancies"
Nicolas Chatron, Laure Raymond, Caroline Schluth-Bolard, et al.
Clinical Kidney Journal
|
January 8, 2024
Beyond the kidney biopsy: genomic approach to undetermined kidney diseases
Thomas Robert, Laure Raymond, Marine Dancer, et al.
Journal of the American Society of Nephrology : JASN
|
September 26, 2024
Systematic Screening of Autosomal Dominant Tubulointerstitial Kidney Disease- MUC1 27dupC Pathogenic Variant through Exome Sequencing
Ilias Bensouna, Thomas Robert, Xavier Vanhoye, et al.
Gene
|
July 12, 2017
Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature
Abdelali Zrhidri, Imane Cherkaoui Jaouad, Jaber Lyahyai, et al.
Clinical Chemistry and Laboratory Medicine
|
August 14, 2024
Reply to: "Is uracil enough for effective pre-emptive DPD testing?"
Fabienne Thomas, Manon Launay, Laure Raymond, et al.
Clinical Chemistry and Laboratory Medicine
|
June 19, 2024
Can we identify patients carrying targeted deleterious <i>DPYD</i> variants with plasma uracil and dihydrouracil? A GPCO-RNPGx retrospective analysis
Manon Launay, Laure Raymond, Jérôme Guitton, et al.
BMC Medical Genetics
|
July 20, 2018
A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report
Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, et al.
Pediatric Rheumatology Online Journal
|
September 28, 2017
Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease
Abdelali Zrhidri, Saadia Amasdl, Jaber Lyahyai, et al.
Kidney International Reports
|
May 2, 2022
Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease
Emmanuel Letavernier, Madeline Schwoehrer, Marine Livrozet, et al.
Kidney International Reports
|
July 9, 2025
Exome Sequencing in Pacific Islanders With Nephropathies of Unknown Origin
David de Saint Gilles, Nicolas Quirin, Yannis Lombardi, et al.
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of 5
Search research articles
Search
Showing results (11-20 of 46) with videos related to
Sort By:
Page
of 5
Prenatal Diagnosis
|
May 21, 2019
Comment on "Trisomy 21 noninvasive prenatal testing for twin pregnancies"
Nicolas Chatron, Laure Raymond, Caroline Schluth-Bolard, et al.
Clinical Kidney Journal
|
January 8, 2024
Beyond the kidney biopsy: genomic approach to undetermined kidney diseases
Thomas Robert, Laure Raymond, Marine Dancer, et al.
Journal of the American Society of Nephrology : JASN
|
September 26, 2024
Systematic Screening of Autosomal Dominant Tubulointerstitial Kidney Disease- MUC1 27dupC Pathogenic Variant through Exome Sequencing
Ilias Bensouna, Thomas Robert, Xavier Vanhoye, et al.
Gene
|
July 12, 2017
Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature
Abdelali Zrhidri, Imane Cherkaoui Jaouad, Jaber Lyahyai, et al.
Clinical Chemistry and Laboratory Medicine
|
August 14, 2024
Reply to: "Is uracil enough for effective pre-emptive DPD testing?"
Fabienne Thomas, Manon Launay, Laure Raymond, et al.
Clinical Chemistry and Laboratory Medicine
|
June 19, 2024
Can we identify patients carrying targeted deleterious <i>DPYD</i> variants with plasma uracil and dihydrouracil? A GPCO-RNPGx retrospective analysis
Manon Launay, Laure Raymond, Jérôme Guitton, et al.
BMC Medical Genetics
|
July 20, 2018
A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report
Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, et al.
Pediatric Rheumatology Online Journal
|
September 28, 2017
Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease
Abdelali Zrhidri, Saadia Amasdl, Jaber Lyahyai, et al.
Kidney International Reports
|
May 2, 2022
Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease
Emmanuel Letavernier, Madeline Schwoehrer, Marine Livrozet, et al.
Kidney International Reports
|
July 9, 2025
Exome Sequencing in Pacific Islanders With Nephropathies of Unknown Origin
David de Saint Gilles, Nicolas Quirin, Yannis Lombardi, et al.
Page
of 5