ProfileOfResearchers

Identified 2

1

TITLE: Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
AUTHORS: Elizabeth J Bhoj; Damien Haye; Annick Toutain; Dominique Bonneau; Irene Kibaek Nielsen; Ida Bay Lund; Pauline Bogaard; Stine Leenskjold; Kadri Karaer; Katherine T Wild; Katheryn L Grand; Mirena C Astiazaran; Luis A Gonzalez Nieto; Ana Carvalho; Daphne Lehalle; Shivarajan M Amudhavalli; Elena Repnikova; Carol Saunders; Isabelle Thiffault; Irfan Saadi; Dong Li; Hakon Hakonarson; Yoann Vial; Elaine Zackai; Patrick Callier; Severine Drunat; Alain Verloes; ...More
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 62, ISSUE: 12

INDEXED IN:

Scopus

WOS

2

TITLE: Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals
AUTHORS: Melissa Hill; Jo Ann Johnson; Sylvie Langlois; Hyun Lee; Stephanie Winsor; Brigid Dineley; Marisa Horniachek; Faustina Lalatta; Luisa Ronzoni; Angela N Barrett; Henna V Advani; Mahesh Choolani; Ron Rabinowitz; Eva Pajkrt; Rachel V van Schendel; Lidewij Henneman; Wieke Rommers; Caterina M Bilardo; Paula Rendeiro; Maria Joao Ribeiro; Jose Rocha; Ida Charlotte Bay Lund; Olav B Petersen; Naja Becher; Ida Vogel; Vigdis Stefansdottir; Sigrun Ingvarsdottir; Helga Gottfredsdottir; Stephen Morris; Lyn S Chitty; ...More
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 7

INDEXED IN:

WOS

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