David A. Koolen
AuthID: R-00F-E92
1
TÃTULO: The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant Full Text
AUTORES: David A Koolen; Rolph Pfundt; Katrin Linda; Gea Beunders; Hermine E Veenstra Knol; Jessie H Conta; Ana Maria Fortuna; Gabriele Gillessen Kaesbach; Sarah Dugan; Sara Halbach; Omar A Abdul Rahman; Heather M Winesett; Wendy K Chung; Marguerite Dalton; Petia S Dimova; Teresa Mattina; Katrina Prescott; Hui Z Zhang; Howard M Saal; Jayne Y Hehir Kwa; ...Mais
PUBLICAÇÃO: 2016, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, NÚMERO: 5
AUTORES: David A Koolen; Rolph Pfundt; Katrin Linda; Gea Beunders; Hermine E Veenstra Knol; Jessie H Conta; Ana Maria Fortuna; Gabriele Gillessen Kaesbach; Sarah Dugan; Sara Halbach; Omar A Abdul Rahman; Heather M Winesett; Wendy K Chung; Marguerite Dalton; Petia S Dimova; Teresa Mattina; Katrina Prescott; Hui Z Zhang; Howard M Saal; Jayne Y Hehir Kwa; ...Mais
PUBLICAÇÃO: 2016, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, NÚMERO: 5
2
TÃTULO: Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism Full Text
AUTORES: David A Koolen; Juliette Dupont; Nicole de Leeuw; Lisenka E L M Vissers; Simone P A van den Heuvel; Alyson Bradbury; James Steer; Arjan P M de Brouwer; Leo P ten Kate; Willy M Nillesen; Bert B A de Vries; Michael J Parker;
PUBLICAÇÃO: 2012, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 20, NÚMERO: 7
AUTORES: David A Koolen; Juliette Dupont; Nicole de Leeuw; Lisenka E L M Vissers; Simone P A van den Heuvel; Alyson Bradbury; James Steer; Arjan P M de Brouwer; Leo P ten Kate; Willy M Nillesen; Bert B A de Vries; Michael J Parker;
PUBLICAÇÃO: 2012, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 20, NÚMERO: 7
