Sophie Nambot - Dissemin

Language
Login

All papers authored by Sophie Nambot

This paper was not found in any repository, but could be made available legally by the author.

2020 Ange‐Line Bruel

ORCID

, Antonio Vitobello

ORCID

, Frédéric Tran Mau‐Them, Sophie Nambot

ORCID

, Arthur Sorlin, Frédéric Tran Mau‐Them

ORCID

, Anne‐Sophie Denommé‐Pichon

ORCID

, Sébastien Moutton, Julian Delanne, Christophe Philippe, Patrick Callier, Yannis Duffourd, Christel Thauvin‐Robinet, Laurence Faivre

Next‐Generation Sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

Upload

This paper was not found in any repository, but could be made available legally by the author.

Cécile Zordan, Renaud Touraine, Christiane Zweier

ORCID

, Alain Verloes

ORCID

, Frédéric Tran Mau‐Them, Emilie Tisserant, Antonio Vitobello

ORCID

, Virginie Carmignac, Sophie Nambot

ORCID

, Sophie Naudion, Francis Ramond

ORCID

, Stephanie Moortgat, André Reis, Mathilde Nizon, Arthur Sorlin and 17 other authors

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

Upload

This paper was not found in any repository, but could be made available legally by the author.

Ash Zawerton, Cyril Mignot, Ashley Sigafoos

ORCID

, Patrick R. Blackburn, Abdul Haseeb

ORCID

, Kirsty McWalter, Shoji Ichikawa, Caroline Nava, Boris Keren, Perrine Charles, Isabelle Marey, Anne-Claude Tabet, Jonathan Levy, Laurence Perrin, Andreas Hartmann and 70 other authors

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Upload

This paper was not found in any repository, but could be made available legally by the author.

2018 Atg T. G. Chiu, Slc L. C. Pei, Ccy C. Y. Mak, Gkc K. C. Leung, Mhc H. C. Yu, Sl L. Lee, T. M.-T. Frederic, M. Vreeburg, S. Nambot

ORCID

, R. Pfundt, L. Faivre, A.-L. Bruel

ORCID

, I. van der Burgt, M. Rossi, B. Isidor and 7 other authors

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

Upload

This paper was not found in any repository, but could be made available legally by the author.

2017 Aurélie Bourchany, Christel Thauvin-Robinet, Daphné Lehalle, Ange-Line Bruel, Alice Masurel-Paulet, Elise Schaefer, Aurélia Jaquette, Nolwenn Jean, Judith St-Onge, Charlotte Poe, Sophie Nambot

ORCID

, Thibaud Jouan, Martin Chevarin, Marjorie Willems, Patrick Callier and 16 other authors

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Upload

Missing publications? Search for publications with a matching author name.