David A. Koolen
AuthID: R-00F-E92
1
TITLE: Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
AUTHORS: Peluso, Francesca; Caraffi, Stefano G.; Contro, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux Boucher, Elise; Carter, Melissa T.; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; ...More
PUBLISHED: 2023, SOURCE: JOURNAL OF MEDICAL GENETICS
AUTHORS: Peluso, Francesca; Caraffi, Stefano G.; Contro, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux Boucher, Elise; Carter, Melissa T.; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; ...More
PUBLISHED: 2023, SOURCE: JOURNAL OF MEDICAL GENETICS
INDEXED IN: 
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TITLE: The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant Full Text
AUTHORS: 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; ...More
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 5
AUTHORS: 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; ...More
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 5
3
TITLE: Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism Full Text
AUTHORS: 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;
PUBLISHED: 2012, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 20, ISSUE: 7
AUTHORS: 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;
PUBLISHED: 2012, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 20, ISSUE: 7
