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S Drunat

Showing results (11-20 of 16) with videos related to

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Clinical Genetics|January 27, 2018
Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis?M-L Vuillaume, M-P Moizard, E Hammouche, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosisC Thauvin-Robinet, S Drunat, P Saugier Veber, et al.
Clinical Genetics|April 5, 2016
Refining the phenotypical and mutational spectrum of Taybi-Linder syndromeA Putoux, A Alqahtani, L Pinson, et al.
Leukemia|October 25, 2017
Differential impact of drugs on the outcome of ETV6-RUNX1 positive childhood B-cell precursor acute lymphoblastic leukaemia: results of the EORTC CLG 58881 and 58951 trialsC Piette, S Suciu, E Clappier, et al.
Molecular Syndromology|June 7, 2012
Update on Kleefstra SyndromeM H Willemsen, A T Vulto-van Silfhout, W M Nillesen, et al.
Clinical Genetics|October 21, 2016
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?S El Chehadeh, R Touraine, F Prieur, et al.
Pageof 2

Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
Clinical Genetics|January 27, 2018
Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis?M-L Vuillaume, M-P Moizard, E Hammouche, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosisC Thauvin-Robinet, S Drunat, P Saugier Veber, et al.
Clinical Genetics|April 5, 2016
Refining the phenotypical and mutational spectrum of Taybi-Linder syndromeA Putoux, A Alqahtani, L Pinson, et al.
Leukemia|October 25, 2017
Differential impact of drugs on the outcome of ETV6-RUNX1 positive childhood B-cell precursor acute lymphoblastic leukaemia: results of the EORTC CLG 58881 and 58951 trialsC Piette, S Suciu, E Clappier, et al.
Molecular Syndromology|June 7, 2012
Update on Kleefstra SyndromeM H Willemsen, A T Vulto-van Silfhout, W M Nillesen, et al.
Clinical Genetics|October 21, 2016
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?S El Chehadeh, R Touraine, F Prieur, et al.
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