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Search Results - Gamble, Candace
Search Results - Gamble, Candace
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Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population
by
Gonzaga-Jauregui, Claudia
,
Gamble, Candace N
,
Yuan, Bo
,
Penney, Samantha
,
Jhangiani, Shalini
,
Muzny, Donna M
,
Gibbs, Richard A
,
Lupski, James R
,
Hecht, Jacqueline T
Published in
European journal of human genetics : EJHG
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De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies
by
Platzer, Konrad
,
Sticht, Heinrich
,
Edwards, Stacey L.
,
Allen, William
,
Angione, Kaitlin M.
,
Bonati, Maria T.
,
Brasington, Campbell
,
Cho, Megan T.
,
Demmer, Laurie A.
,
Falik-Zaccai, Tzipora
,
Gamble, Candace N.
,
Hellenbroich, Yorck
,
Iascone, Maria
,
Kok, Fernando
,
Mahida, Sonal
,
Mandel, Hanna
,
Marquardt, Thorsten
,
McWalter, Kirsty
,
Panis, Bianca
,
Pepler, Alexander
,
Pinz, Hailey
,
Ramos, Luiza
,
Shinde, Deepali N.
,
Smith-Hicks, Constance
,
Stegmann, Alexander P.A.
,
Stöbe, Petra
,
Stumpel, Constance T.R.M.
,
Wilson, Carolyn
,
Lemke, Johannes R.
,
Di Donato, Nataliya
,
Miller, Kenneth G.
,
Jamra, Rami
Published in
American journal of human genetics
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De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder
by
Mattioli, Francesca
,
Hayot, Gaelle
,
Drouot, Nathalie
,
Isidor, Bertrand
,
Courraud, Jérémie
,
Hinckelmann, Maria-Victoria
,
Mau-Them, Frederic Tran
,
Sellier, Chantal
,
Goldman, Alica
,
Telegrafi, Aida
,
Boughton, Alicia
,
Gamble, Candace
,
Moutton, Sebastien
,
Quartier, Angélique
,
Jean, Nolwenn
,
Van Ness, Paul
,
Grotto, Sarah
,
Nambot, Sophie
,
Douglas, Ganka
,
Si, Yue Cindy
,
Chelly, Jamel
,
Shad, Zohra
,
Kaplan, Elisabeth
,
Dineen, Richard
,
Golzio, Christelle
,
Charlet-Berguerand, Nicolas
,
Mandel, Jean-Louis
,
Piton, Amélie
Published in
American journal of human genetics
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Multicenter study of mortality in achondroplasia
by
Hashmi, S. Shahrukh
,
Gamble, Candace
,
Hoover‐Fong, Julie
,
Alade, Adekemi Yewande
,
Pauli, Richard M.
,
Modaff, Peggy
,
Carney, Meagan
,
Brown, Cassondra
,
Bober, Michael B.
,
Hecht, Jacqueline T.
Published in
American journal of medical genetics. Part A
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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay
by
Vissers, Lisenka E.L.M.
,
Kalvakuri, Sreehari
,
de Boer, Elke
,
Geuer, Sinje
,
Oud, Machteld
,
van Outersterp, Inge
,
Kwint, Michael
,
Witmond, Melde
,
Kersten, Simone
,
Polla, Daniel L.
,
Weijers, Dilys
,
Begtrup, Amber
,
McWalter, Kirsty
,
Ruiz, Anna
,
Gabau, Elisabeth
,
Morton, Jenny E.V.
,
Griffith, Christopher
,
Weiss, Karin
,
Gamble, Candace
,
Bartley, James
,
Vernon, Hilary J.
,
Brunet, Kendra
,
Ruivenkamp, Claudia
,
Kant, Sarina G.
,
Kruszka, Paul
,
Larson, Austin
,
Afenjar, Alexandra
,
Billette de Villemeur, Thierry
,
Nugent, Kimberly
,
Raymond, F. Lucy
,
Venselaar, Hanka
,
Demurger, Florence
,
Soler-Alfonso, Claudia
,
Li, Dong
,
Bhoj, Elizabeth
,
Hayes, Ian
,
Hamilton, Nina Powell
,
Ahmad, Ayesha
,
Fisher, Rachel
,
van den Born, Myrthe
,
Willems, Marjolaine
,
Sorlin, Arthur
,
Delanne, Julian
,
Moutton, Sebastien
,
Christophe, Philippe
,
Mau-Them, Frederic Tran
,
Vitobello, Antonio
,
Goel, Himanshu
,
Massingham, Lauren
,
Phornphutkul, Chanika
,
Schwab, Jennifer
,
Keren, Boris
,
Charles, Perrine
,
Vreeburg, Maaike
,
De Simone, Lenika
,
Hoganson, George
,
Iascone, Maria
,
Milani, Donatella
,
Evenepoel, Lucie
,
Revencu, Nicole
,
Ward, D. Isum
,
Burns, Kaitlyn
,
Krantz, Ian
,
Raible, Sarah E.
,
Murrell, Jill R.
,
Wood, Kathleen
,
Cho, Megan T.
,
van Bokhoven, Hans
,
Muenke, Maximilian
,
Kleefstra, Tjitske
,
Bodmer, Rolf
,
de Brouwer, Arjan P.M.
Published in
American journal of human genetics
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Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons
by
Runge, Karen
,
Mathieu, Rémi
,
Bugeon, Stéphane
,
Lafi, Sahra
,
Beurrier, Corinne
,
Sahu, Surajit
,
Schaller, Fabienne
,
Loubat, Arthur
,
Herault, Leonard
,
Gaillard, Stéphane
,
Pallesi-Pocachard, Emilie
,
Montheil, Aurélie
,
Bosio, Andreas
,
Rosenfeld, Jill A
,
Hudson, Eva
,
Lindstrom, Kristin
,
Mercimek-Andrews, Saadet
,
Jeffries, Lauren
,
van Haeringen, Arie
,
Vanakker, Olivier
,
Van Hecke, Audrey
,
Amrom, Dina
,
Küry, Sebastien
,
Ratner, Chana
,
Jethva, Reena
,
Gamble, Candace
,
Jacq, Bernard
,
Fasano, Laurent
,
Santpere, Gabriel
,
Lorente-Galdos, Belen
,
Sestan, Nenad
,
Gelot, Antoinette
,
Giacuzz, Sylvie
,
Goebbels, Sandra
,
Represa, Alfonso
,
Cardoso, Carlos
,
Cremer, Harold
,
de Chevigny, Antoine
Published in
Molecular psychiatry
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Pseudoachondroplasia and painful sequelae
by
Gamble, Candace
,
Nguyen, Joanne
,
Hashmi, S. Shahrukh
,
Hecht, Jacqueline T.
Published in
American journal of medical genetics. Part A
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Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons
by
Runge, Karen
,
Mathieu, Rémi
,
Bugeon, Stéphane
,
Lafi, Sahra
,
Beurrier, Corinne
,
Sahu, Surajit
,
Schaller, Fabienne
,
Loubat, Arthur
,
Herault, Leonard
,
Gaillard, Stéphane
,
Pallesi-Pocachard, Emilie
,
Montheil, Aurélie
,
Bosio, Andreas
,
Rosenfeld, Jill A
,
Hudson, Eva
,
Lindstrom, Kristin
,
Mercimek-Andrews, Saadet
,
Jeffries, Lauren
,
van Haeringen, Arie
,
Vanakker, Olivier
,
Van Hecke, Audrey
,
Amrom, Dina
,
Küry, Sebastien
,
Ratner, Chana
,
Jethva, Reena
,
Gamble, Candace
,
Jacq, Bernard
,
Fasano, Laurent
,
Santpere, Gabriel
,
Lorente-Galdos, Belen
,
Sestan, Nenad
,
Gelot, Antoinette
,
Giacuzz, Sylvie
,
Goebbels, Sandra
,
Represa, Alfonso
,
Cardoso, Carlos
,
Cremer, Harold
,
de Chevigny, Antoine
Published in
Molecular psychiatry
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Prenatal diagnosis of 5p deletion syndrome in a female fetus leading to identification of the same diagnosis in her mother
by
Nguyen, Joanne Macayran
,
Gamble, Candace
,
Smith, Janice L.
,
Raia, Marianna
,
Johnson, Anthony
,
Czerwinski, Jennifer
Published in
Prenatal diagnosis
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The Future of Emergency Care in the United States Health System
by
Institute of Medicine
,
Institute of Medicine Committee on the Future of Emergency Care in the U.S. Health System
Published in
Annals of emergency medicine
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Alumni Perceptions of a Health Services Management Program: An Assessment
by
Isaac, Winston W.
,
Nippak, Pria
,
Douglas, Candace Ikeda
,
Gamble, Brenda
,
Deber, Raisa
Published in
The Journal of health administration education
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