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J Steffann

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Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction|September 28, 2011
[Preimplantation diagnosis with HLA typing: birth of the first double hope child in France]F Lamazou, J Steffann, N Frydman, et al.
Clinical Genetics|February 14, 2015
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathyC Leroy, M-L Jacquemont, B Doray, et al.
Journal of Medical Genetics|May 13, 2006
Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal developmentC Bouchet, J Steffann, J Corcos, et al.
Biochimica Et Biophysica Acta|February 14, 2012
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndromeZ Assouline, M Jambou, M Rio, et al.
The British Journal of Dermatology|June 2, 2020
The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutationsN Bellon, S Hadj-Rabia, F Moulin, et al.
Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction|August 31, 2006
[Preimplantation genetic diagnosis (PGD): results from a Parisian center]E Feyereisen, S Romana, V Kerbrat, et al.
American Journal of Human Genetics|October 12, 2001
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structuresJ Amiel, Y Espinosa-Parrilla, J Steffann, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|July 18, 2020
Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmentiC Bodemer, A Diociaiuti, S Hadj-Rabia, et al.
Human Molecular Genetics|April 20, 2001
MECP2 is highly mutated in X-linked mental retardationP Couvert, T Bienvenu, C Aquaviva, et al.
Human Reproduction (Oxford, England)|February 13, 2018
The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE studyG Kakourou, S Kahraman, G C Ekmekci, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction|September 28, 2011
[Preimplantation diagnosis with HLA typing: birth of the first double hope child in France]F Lamazou, J Steffann, N Frydman, et al.
Clinical Genetics|February 14, 2015
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathyC Leroy, M-L Jacquemont, B Doray, et al.
Journal of Medical Genetics|May 13, 2006
Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal developmentC Bouchet, J Steffann, J Corcos, et al.
Biochimica Et Biophysica Acta|February 14, 2012
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndromeZ Assouline, M Jambou, M Rio, et al.
The British Journal of Dermatology|June 2, 2020
The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutationsN Bellon, S Hadj-Rabia, F Moulin, et al.
Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction|August 31, 2006
[Preimplantation genetic diagnosis (PGD): results from a Parisian center]E Feyereisen, S Romana, V Kerbrat, et al.
American Journal of Human Genetics|October 12, 2001
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structuresJ Amiel, Y Espinosa-Parrilla, J Steffann, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|July 18, 2020
Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmentiC Bodemer, A Diociaiuti, S Hadj-Rabia, et al.
Human Molecular Genetics|April 20, 2001
MECP2 is highly mutated in X-linked mental retardationP Couvert, T Bienvenu, C Aquaviva, et al.
Human Reproduction (Oxford, England)|February 13, 2018
The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE studyG Kakourou, S Kahraman, G C Ekmekci, et al.
Pageof 4