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European Journal of Medical Genetics
|
March 12, 2010
Congenital absence of the left pericardium and diaphragmatic defect in sibs
Alain Verloes, Laurence Perrin, Kathy Delbecque, et al.
Clinical Dysmorphology
|
October 18, 2003
Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals
Gilles Morin, Lucie Villemain, Clarisse Baumann, et al.
American Journal of Medical Genetics. Part A
|
April 25, 2012
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines)
Juliette Piard, Alain Verloes, Hélène Cavé, et al.
Annales D'Endocrinologie
|
March 7, 2017
How to recognize Cowden syndrome: A novel PTEN mutation description
Pauline Delannoy, François Guillaume Debray, Alain Verloes, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
November 30, 2023
PACS2 pathogenic variant associated with malformation of cortical development and epilepsy
Rayann Checri, Blandine Dozières-Puyravel, Monique Elmaleh-Bergès, et al.
European Journal of Human Genetics : EJHG
|
February 19, 2015
Clinical utility gene card for: CHARGE syndrome - update 2015
Conny M A van Ravenswaaij-Arts, Kim Blake, Lies Hoefsloot, et al.
European Journal of Human Genetics : EJHG
|
March 17, 2011
Clinical utility gene card for: CHARGE syndrome
Kim Blake, Conny M A van Ravenswaaij-Arts, Lies Hoefsloot, et al.
Journal of Neurology
|
February 25, 2005
Diffuse cortical atrophy in a patient with Turner syndrome and Leber hereditary optic neuropathy
Pierre Blaise, Arnaud Fumal, Nicolas Janin, et al.
Human Molecular Genetics
|
March 6, 2012
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
Jose Bras, Alain Verloes, Susanne A Schneider, et al.
American Journal of Medical Genetics. Part A
|
August 13, 2005
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?
Luigi Titomanlio, Selim Bennaceur, Dominique Bremond-Gignac, et al.
Page
of 29
Search research articles
Search
Showing results (21-30 of 288) with videos related to
Sort By:
Page
of 29
European Journal of Medical Genetics
|
March 12, 2010
Congenital absence of the left pericardium and diaphragmatic defect in sibs
Alain Verloes, Laurence Perrin, Kathy Delbecque, et al.
Clinical Dysmorphology
|
October 18, 2003
Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals
Gilles Morin, Lucie Villemain, Clarisse Baumann, et al.
American Journal of Medical Genetics. Part A
|
April 25, 2012
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines)
Juliette Piard, Alain Verloes, Hélène Cavé, et al.
Annales D'Endocrinologie
|
March 7, 2017
How to recognize Cowden syndrome: A novel PTEN mutation description
Pauline Delannoy, François Guillaume Debray, Alain Verloes, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
November 30, 2023
PACS2 pathogenic variant associated with malformation of cortical development and epilepsy
Rayann Checri, Blandine Dozières-Puyravel, Monique Elmaleh-Bergès, et al.
European Journal of Human Genetics : EJHG
|
February 19, 2015
Clinical utility gene card for: CHARGE syndrome - update 2015
Conny M A van Ravenswaaij-Arts, Kim Blake, Lies Hoefsloot, et al.
European Journal of Human Genetics : EJHG
|
March 17, 2011
Clinical utility gene card for: CHARGE syndrome
Kim Blake, Conny M A van Ravenswaaij-Arts, Lies Hoefsloot, et al.
Journal of Neurology
|
February 25, 2005
Diffuse cortical atrophy in a patient with Turner syndrome and Leber hereditary optic neuropathy
Pierre Blaise, Arnaud Fumal, Nicolas Janin, et al.
Human Molecular Genetics
|
March 6, 2012
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
Jose Bras, Alain Verloes, Susanne A Schneider, et al.
American Journal of Medical Genetics. Part A
|
August 13, 2005
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?
Luigi Titomanlio, Selim Bennaceur, Dominique Bremond-Gignac, et al.
Page
of 29