Literature DB >> 35606496

Reply to Pubpeer anonymous contributors: incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Laila El Khattabi1, Fabien Guimiot2,3,4, Andrée Delahaye-Duriez5,6,7,8.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2022        PMID: 35606496      PMCID: PMC9437036          DOI: 10.1038/s41431-022-01110-0

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   5.351


× No keyword cloud information.
  2 in total

1.  Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Authors:  Laïla El Khattabi; Fabien Guimiot; Eva Pipiras; Joris Andrieux; Clarisse Baumann; Sonia Bouquillon; Anne-Lise Delezoide; Bruno Delobel; Florence Demurger; Hélène Dessuant; Séverine Drunat; Christelle Dubourg; Céline Dupont; Laurence Faivre; Muriel Holder-Espinasse; Sylvie Jaillard; Hubert Journel; Stanislas Lyonnet; Valérie Malan; Alice Masurel; Nathalie Marle; Chantal Missirian; Alexandre Moerman; Anne Moncla; Sylvie Odent; Orazio Palumbo; Pietro Palumbo; Aimé Ravel; Serge Romana; Anne-Claude Tabet; Mylène Valduga; Marie Vermelle; Massimo Carella; Jean-Michel Dupont; Alain Verloes; Brigitte Benzacken; Andrée Delahaye
Journal:  Eur J Hum Genet       Date:  2014-11-05       Impact factor: 4.246

2.  EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.

Authors:  Jonathan Lévy; Bérénice Schell; Hala Nasser; Myriam Rachid; Lyse Ruaud; Nathalie Couque; Patrick Callier; Laurence Faivre; Nathalie Marle; Aafke Engwerda; Conny M A van Ravenswaaij-Arts; Morgane Plutino; Houda Karmous-Benailly; Caroline Benech; Sylvia Redon; Odile Boute; Elise Boudry Labis; Mélanie Rama; Paul Kuentz; Jessica Assoumani; Lionel Van Maldergem; Céline Dupont; Alain Verloes; Anne-Claude Tabet
Journal:  Clin Genet       Date:  2021-07-01       Impact factor: 4.438

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.