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Author/Creator Grange, Dorothy K

3. Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. Issue 3 (14th October 2009)

Authors:
Thienpont, Bernard; Béna, Frédérique; Breckpot, Jeroen; Philip, Nicole; Menten, Björn; Van Esch, Hilde; Scalais, Emmanuel; Salamone, Jessica M; Fong, Chin-To; Kussmann, Jennifer L; Grange, Dorothy K; Gorski, Jerome L; Zahir, Farah; Yong, Siu Li; Morris, Michael M; Gimelli, Stefania; Fryns, Jean-P...
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 3(2010)
Page Start:
155
Record Type:
Journal Article
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4. Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease. Issue 4 (11th September 2021)

Authors:
Zheng, Wen-Qiang; Pedersen, Signe Vandal; Thompson, Kyle; Bellacchio, Emanuele; French, Courtney E; Munro, Benjamin; Pearson, Toni S; Vogt, Julie; Diodato, Daria; Diemer, Tue; Ernst, Anja; Horvath, Rita; Chitre, Manali; Ek, Jakob; Wibrand, Flemming; Grange, Dorothy K; Raymond, Lucy; Zhou, Xiao-Lo...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 4(2022)
Page Start:
523
Record Type:
Journal Article
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5. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. Issue 12 (8th October 2011)

Authors:
El-Hattab, Ayman W; Fang, Ping; Jin, Weihong; Hughes, Jeffrey R; Gibson, James B; Patel, Gayle S; Grange, Dorothy K; Manwaring, Linda P; Patel, Ankita; Stankiewicz, Pawel; Cheung, Sau Wai
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 12(2011)
Page Start:
840
Record Type:
Journal Article
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6. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. Issue 6 (17th April 2014)

Authors:
Bear, Kelly A; Solomon, Benjamin D; Antonini, Sonir; Arnhold, Ivo J P; França, Marcela M; Gerkes, Erica H; Grange, Dorothy K; Hadley, Donald W; Jääskeläinen, Jarmo; Paulo, Sabrina S; Rump, Patrick; Stratakis, Constantine A; Thompson, Elizabeth M; Willis, Mary; Winder, Thomas L; Jorge, Alexander A...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 6(2014)
Page Start:
413
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗