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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 3, 2022
Response to Kossmann Ferraz et al
Mathilde Nizon, Bertrand Isidor
Neurogenetics
|
June 1, 2023
Response to a letter to the editor
Jeanne Jury, Mathilde Nizon, Benjamin Cogné, et al.
Medecine Sciences : M/S
|
December 5, 2017
[Should the knowledge be imperative? The key challenge of high throughput genetics]
Bertrand Isidor, Sophie Julia, Mathilde Nizon, et al.
European Journal of Medical Genetics
|
November 26, 2018
A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability
Mathilde Pacault, Mathilde Nizon, Olivier Pichon, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|
November 25, 2015
Clinical and neuroradiological features of the 9p deletion syndrome
Peter Spazzapan, Eric Arnaud, Genevieve Baujat, et al.
Journal of Dermatological Science
|
November 3, 2023
Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
Natarin Caengprasath, Mathilde Nizon, Ratchathorn Panchaprateep, et al.
Ophthalmic Genetics
|
March 2, 2019
Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome
Marie Le Grignou, Alice Bleriot, Mathilde Nizon, et al.
Prenatal Diagnosis
|
August 8, 2024
Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype
Jeanne Jury, Madeleine Joubert, Claudine Le Vaillant, et al.
Orphanet Journal of Rare Diseases
|
March 13, 2021
First French study relative to preconception genetic testing: 1500 general population participants' opinion
Valérie Bonneau, Mathilde Nizon, Xenia Latypova, et al.
American Journal of Medical Genetics. Part A
|
February 26, 2021
14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients
Celeste C Eno, Jesper Graakjaer, Dea Svaneby, et al.
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of 12
Search research articles
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Showing results (1-10 of 120) with videos related to
Sort By:
Page
of 12
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 3, 2022
Response to Kossmann Ferraz et al
Mathilde Nizon, Bertrand Isidor
Neurogenetics
|
June 1, 2023
Response to a letter to the editor
Jeanne Jury, Mathilde Nizon, Benjamin Cogné, et al.
Medecine Sciences : M/S
|
December 5, 2017
[Should the knowledge be imperative? The key challenge of high throughput genetics]
Bertrand Isidor, Sophie Julia, Mathilde Nizon, et al.
European Journal of Medical Genetics
|
November 26, 2018
A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability
Mathilde Pacault, Mathilde Nizon, Olivier Pichon, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|
November 25, 2015
Clinical and neuroradiological features of the 9p deletion syndrome
Peter Spazzapan, Eric Arnaud, Genevieve Baujat, et al.
Journal of Dermatological Science
|
November 3, 2023
Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
Natarin Caengprasath, Mathilde Nizon, Ratchathorn Panchaprateep, et al.
Ophthalmic Genetics
|
March 2, 2019
Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome
Marie Le Grignou, Alice Bleriot, Mathilde Nizon, et al.
Prenatal Diagnosis
|
August 8, 2024
Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype
Jeanne Jury, Madeleine Joubert, Claudine Le Vaillant, et al.
Orphanet Journal of Rare Diseases
|
March 13, 2021
First French study relative to preconception genetic testing: 1500 general population participants' opinion
Valérie Bonneau, Mathilde Nizon, Xenia Latypova, et al.
American Journal of Medical Genetics. Part A
|
February 26, 2021
14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients
Celeste C Eno, Jesper Graakjaer, Dea Svaneby, et al.
Page
of 12