Rezultati - Isabelle De Bie
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Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada od Christine M. Armour, Shelley Dougan, Jo‐Ann Brock, Radha Chari, Bernie N. Chodirker, Isabelle DeBie, Jane Evans, William T. Gibson, Elena Kolomietz, Tanya N. Nelson, Frédérique Tihy, Mary Ann Thomas, Dimitri J. Stavropoulos
Izdano 2018Artigo -
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The genetic basis of DOORS syndrome: an exome-sequencing study od Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu, Lindsay C. Burrage, Choel Kim, Mutsuki Hori, Berkley R. Powell, Fiona Stewart, Têmis Maria Félix, Jenneke van den Ende, Marzena Wiśniewska, Hülya Kayserili, Patrick Rump, Sheela Nampoothiri, Salim Aftimos, Antje Mey, Lal D V Nair, Michael L. Begleiter, Isabelle De Bie, Girish Meenakshi, Mitzi L. Murray, Gabriela M. Repetto, Mahin Golabi, Edward Blair, Alison Male, Fabienne Giuliano, Ariana Kariminejad, William G. Newman, Sanjeev S. Bhaskar, Jonathan E. Dickerson, Bronwyn Kerr, Siddharth Banka, Jacques C. Giltay, Dagmar Wieczorek, Anna Tostevin, Joanna Wiszniewska, Sau Wai Cheung, Raoul C. M. Hennekam, Richard A. Gibbs, Brendan Lee, Sanjay M. Sisodiya
Izdano 2013Artigo -
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<i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects od Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike Heyne, Katherine L. Helbig, Sha Tang, Marcia Willing, Brad T. Tinkle, Darius J. Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M. Strom, Heather C. Mefford, Candace T. Myers, Alison M. Muir, Amy Lacroix, Lynette G. Sadleir, Ingrid E. Scheffer, Eva H. Brilstra, Mieke M. van Haelst, Jasper J. van der Smagt, Levinus A. Bok, Rikke S. Møller, Uffe Birk Jensen, J Gordon Millichap, Anne T. Berg, Ethan M. Goldberg, Isabelle De Bie, Stéphanie Fox, Philippe Major, Julie R. Jones, Elaine H. Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J. Leventer, John A. Lawson, Tony Roscioli, Floor E. Jansen, Emmanuelle Ranza, Christian Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Andrew R. Smith, Christine M. Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen‐Hann Tan, Mark A. Tarnopolsky, Lauren Brady, Markus Wolff, Lutz Dondit, Hélio Pedro, Sarah Parisotto, Kelly L. Jones, Anup D. Patel, David Neal Franz, Rena Vanzo, Elysa Marco, Judith D. Ranells, Nataliya Di Donato, William B. Dobyns, Bodo Laube, Stephen F. Traynelis, Johannes R. Lemke
Izdano 2017Artigo
Iskalna orodja:
Sorodne teme
Biology
Gene
Genetics
Medicine
Alternative medicine
Amino acid
Biochemistry
Bioinformatics
Cell
Cell biology
Cholesterol
Computational biology
Context (archaeology)
Cytoplasm
DNA sequencing
Encephalopathy
Evolutionary biology
Exome
Exome sequencing
Exon
Family medicine
Fetus
Gene expression
Gene isoform
Genetic counseling
Genetic testing
Golgi apparatus
Guideline
Gynecology
Informed consent