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J Steffann

Showing results (11-20 of 31) with videos related to

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Clinical Genetics|March 8, 2013
Successful pre-implantation genetic diagnosis for Hirschsprung diseaseP Burlet, C Steichen, L Hesters, et al.
Reproductive Biomedicine Online|February 7, 2008
Preimplantation genetic diagnosis for autosomal recessive polycystic kidney diseaseN Gigarel, N Frydman, P Burlet, et al.
Human Reproduction (Oxford, England)|September 27, 2021
What is the threshold of mature oocytes to obtain at least one healthy transferable cleavage-stage embryo after preimplantation genetic testing for fragile X syndrome?C Sonigo, A Mayeur, M Sadoun, et al.
Clinical Genetics|December 8, 1998
Detection of more than 91% cystic fibrosis mutations in a sample of the population from Reunion Island and identification of two novel mutations (A309G, S1255L) and one novel polymorphism (L49L)F Cartault, J Steffann, D Vidaud, et al.
Molecular Human Reproduction|August 10, 2006
Multiple displacement amplification improves PGD for fragile X syndromeP Burlet, N Frydman, N Gigarel, et al.
Journal De La Societe De Biologie|April 28, 2001
[Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy]J Amiel, R Salomon, T Attié-Bitach, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|September 22, 2015
Unique subungueal keratoacanthoma revealing incontinentia pigmentiM Ferneiny, S Hadj-Rabia, S Regnier, et al.
Journal of Assisted Reproduction and Genetics|February 5, 2026
Effectiveness of preimplantation genetic testing in sickle cell disease: insights from a single-center experienceA Aganahi, F Souare, A Mayeur, et al.
Journal of Medical Genetics|September 13, 2005
Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosisJ Steffann, N Frydman, N Gigarel, et al.
Journal of Medical Genetics|June 5, 2007
Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndromeJ Steffann, N Gigarel, J Corcos, et al.
Pageof 4

Showing results (11-20 of 31) with videos related to

Sort By:
Pageof 4
Clinical Genetics|March 8, 2013
Successful pre-implantation genetic diagnosis for Hirschsprung diseaseP Burlet, C Steichen, L Hesters, et al.
Reproductive Biomedicine Online|February 7, 2008
Preimplantation genetic diagnosis for autosomal recessive polycystic kidney diseaseN Gigarel, N Frydman, P Burlet, et al.
Human Reproduction (Oxford, England)|September 27, 2021
What is the threshold of mature oocytes to obtain at least one healthy transferable cleavage-stage embryo after preimplantation genetic testing for fragile X syndrome?C Sonigo, A Mayeur, M Sadoun, et al.
Clinical Genetics|December 8, 1998
Detection of more than 91% cystic fibrosis mutations in a sample of the population from Reunion Island and identification of two novel mutations (A309G, S1255L) and one novel polymorphism (L49L)F Cartault, J Steffann, D Vidaud, et al.
Molecular Human Reproduction|August 10, 2006
Multiple displacement amplification improves PGD for fragile X syndromeP Burlet, N Frydman, N Gigarel, et al.
Journal De La Societe De Biologie|April 28, 2001
[Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy]J Amiel, R Salomon, T Attié-Bitach, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|September 22, 2015
Unique subungueal keratoacanthoma revealing incontinentia pigmentiM Ferneiny, S Hadj-Rabia, S Regnier, et al.
Journal of Assisted Reproduction and Genetics|February 5, 2026
Effectiveness of preimplantation genetic testing in sickle cell disease: insights from a single-center experienceA Aganahi, F Souare, A Mayeur, et al.
Journal of Medical Genetics|September 13, 2005
Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosisJ Steffann, N Frydman, N Gigarel, et al.
Journal of Medical Genetics|June 5, 2007
Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndromeJ Steffann, N Gigarel, J Corcos, et al.
Pageof 4