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Clinical Genetics
|
July 5, 2020
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene
Clarisse Billon, Arnaud Molin, Céline Poirsier, et al.
Kidney International
|
June 21, 2024
Erratum to "An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)." Kidney International 2023;105:1058-1076
Zewu Zhu, Bryan Bo-Ran Ho, Alyssa Chen, et al.
Kidney International
|
February 16, 2024
An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
Zewu Zhu, Bryan Bo-Ran Ho, Alyssa Chen, et al.
Acta Neuropathologica Communications
|
July 3, 2026
Phenotype-specific muscle proteomic profiling in titinopathies
Aurélien Perrin, Marie-Rocio Casenave-Camgaston, Baptiste Rabillard, et al.
Journal of Medical Genetics
|
August 16, 2023
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
Caroline Racine, Anne-Sophie Denommé-Pichon, Camille Engel, et al.
American Journal of Medical Genetics. Part A
|
February 29, 2024
3q29 duplications: A cohort of 46 patients and a literature review
Marie Massier, Martine Doco-Fenzy, Matthieu Egloff, et al.
Annales D'Endocrinologie
|
May 8, 2026
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions
Laurence Faivre, Camille Level, Régis Coutant, et al.
Annales D'Endocrinologie
|
March 21, 2026
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions
Laurence Faivre, Camille Level, Régis Coutant, et al.
American Journal of Human Genetics
|
January 15, 2019
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
Justyna A Karolak, Marie Vincent, Gail Deutsch, et al.
Annales D'Endocrinologie
|
September 1, 2025
French expert consensus statement on diagnosis and MANAGEMENT of PRIMARY HYPERPARATHYROIDISM
Marie-Christine Vantyghem, Eric Mirallié, Abdallah Al-Salameh, et al.
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Search research articles
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Showing results (41-50 of 50) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 50 results.
Clinical Genetics
|
July 5, 2020
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene
Clarisse Billon, Arnaud Molin, Céline Poirsier, et al.
Kidney International
|
June 21, 2024
Erratum to "An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)." Kidney International 2023;105:1058-1076
Zewu Zhu, Bryan Bo-Ran Ho, Alyssa Chen, et al.
Kidney International
|
February 16, 2024
An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
Zewu Zhu, Bryan Bo-Ran Ho, Alyssa Chen, et al.
Acta Neuropathologica Communications
|
July 3, 2026
Phenotype-specific muscle proteomic profiling in titinopathies
Aurélien Perrin, Marie-Rocio Casenave-Camgaston, Baptiste Rabillard, et al.
Journal of Medical Genetics
|
August 16, 2023
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
Caroline Racine, Anne-Sophie Denommé-Pichon, Camille Engel, et al.
American Journal of Medical Genetics. Part A
|
February 29, 2024
3q29 duplications: A cohort of 46 patients and a literature review
Marie Massier, Martine Doco-Fenzy, Matthieu Egloff, et al.
Annales D'Endocrinologie
|
May 8, 2026
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions
Laurence Faivre, Camille Level, Régis Coutant, et al.
Annales D'Endocrinologie
|
March 21, 2026
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions
Laurence Faivre, Camille Level, Régis Coutant, et al.
American Journal of Human Genetics
|
January 15, 2019
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
Justyna A Karolak, Marie Vincent, Gail Deutsch, et al.
Annales D'Endocrinologie
|
September 1, 2025
French expert consensus statement on diagnosis and MANAGEMENT of PRIMARY HYPERPARATHYROIDISM
Marie-Christine Vantyghem, Eric Mirallié, Abdallah Al-Salameh, et al.
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