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International Journal of Cardiology
|
November 16, 2024
Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies
Flavie Ader, Neil Derridj, Anne Claire Brehin, et al.
European Journal of Human Genetics : EJHG
|
November 30, 2017
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference
Aurélien Trimouille, Nada Houcinat, Marie-Laure Vuillaume, et al.
American Journal of Medical Genetics. Part A
|
May 1, 2014
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity
Marie-Laure Vuillaume, Sophie Naudion, Guillaume Banneau, et al.
Journal of Medical Genetics
|
November 11, 2022
<i>OTX2</i> duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
Tristan Celse, Angèle Tingaud-Sequeira, Klaus Dieterich, et al.
European Journal of Human Genetics : EJHG
|
June 15, 2017
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?
Jessica Le Gall, Mathilde Nizon, Olivier Pichon, et al.
Scientific Reports
|
June 20, 2020
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule
Laure Cayrefourcq, Marie-Claire Vincent, Sandra Pierredon, et al.
Clinical Genetics
|
April 1, 2024
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication
Alexis Billes, Mathilde Pujalte, Guillaume Jedraszak, et al.
The Journal of Experimental Medicine
|
May 2, 2019
Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance
Zinan Zhang, Florian Gothe, Perrine Pennamen, et al.
The Journal of Pediatrics
|
March 13, 2017
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
Solveig Heide, Boris Keren, Thierry Billette de Villemeur, et al.
European Journal of Human Genetics : EJHG
|
September 24, 2015
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
Sophie Nambot, Alice Masurel, Salima El Chehadeh, et al.
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of 13
Search research articles
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Showing results (81-90 of 124) with videos related to
Sort By:
Page
of 13
International Journal of Cardiology
|
November 16, 2024
Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies
Flavie Ader, Neil Derridj, Anne Claire Brehin, et al.
European Journal of Human Genetics : EJHG
|
November 30, 2017
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference
Aurélien Trimouille, Nada Houcinat, Marie-Laure Vuillaume, et al.
American Journal of Medical Genetics. Part A
|
May 1, 2014
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity
Marie-Laure Vuillaume, Sophie Naudion, Guillaume Banneau, et al.
Journal of Medical Genetics
|
November 11, 2022
<i>OTX2</i> duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
Tristan Celse, Angèle Tingaud-Sequeira, Klaus Dieterich, et al.
European Journal of Human Genetics : EJHG
|
June 15, 2017
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?
Jessica Le Gall, Mathilde Nizon, Olivier Pichon, et al.
Scientific Reports
|
June 20, 2020
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule
Laure Cayrefourcq, Marie-Claire Vincent, Sandra Pierredon, et al.
Clinical Genetics
|
April 1, 2024
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication
Alexis Billes, Mathilde Pujalte, Guillaume Jedraszak, et al.
The Journal of Experimental Medicine
|
May 2, 2019
Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance
Zinan Zhang, Florian Gothe, Perrine Pennamen, et al.
The Journal of Pediatrics
|
March 13, 2017
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
Solveig Heide, Boris Keren, Thierry Billette de Villemeur, et al.
European Journal of Human Genetics : EJHG
|
September 24, 2015
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
Sophie Nambot, Alice Masurel, Salima El Chehadeh, et al.
Page
of 13