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Search Results - Cox, Eleina
Search Results - Cox, Eleina
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Connective Tissue Disorders and Fragile X Molecular Status in Females: A Case Series and Review
by
Butler, Merlin G
,
Hossain, Waheeda A
,
Steinle, Jacob
,
Gao, Harry
,
Cox, Eleina
,
Niu, Yuxin
,
Quach, May
,
Veatch, Olivia J
Published in
International journal of molecular sciences
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Compound heterozygous loss of function variants in MYL9 in a child with megacystis–microcolon–intestinal hypoperistalsis syndrome
by
Kandler, Justin L.
,
Sklirou, Evgenia
,
Woerner, Audrey
,
Walsh, Leslie
,
Cox, Eleina
,
Xue, Yuan
Published in
Molecular genetics & genomic medicine
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Prenatal presentation and diagnosis of Baraitser‐Winter syndrome using exome sequencing
by
Zhang, Kermit
,
Cox, Eleina
,
Strom, Samuel
,
Xu, Zhuo Luan
,
Disilvestro, Alexis
,
Usrey, Kelly
Published in
American journal of medical genetics. Part A
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Prenatal presentation and diagnosis of Baraitser-Winter syndrome using exome sequencing
by
Zhang, Kermit
,
Cox, Eleina
,
Strom, Samuel
,
Xu, Zhuo Luan
,
Disilvestro, Alexis
,
Usrey, Kelly
Published in
American journal of medical genetics. Part A
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
by
Jeanne, Médéric
,
Demory, Hélène
,
Moutal, Aubin
,
Vuillaume, Marie-Laure
,
Blesson, Sophie
,
Thépault, Rose-Anne
,
Marouillat, Sylviane
,
Halewa, Judith
,
Maas, Saskia M.
,
Motazacker, M. Mahdi
,
Mancini, Grazia M.S.
,
van Slegtenhorst, Marjon A.
,
Andreou, Avgi
,
Cox, Helene
,
Vogt, Julie
,
Laufman, Jason
,
Kostandyan, Natella
,
Babikyan, Davit
,
Hancarova, Miroslava
,
Bendova, Sarka
,
Sedlacek, Zdenek
,
Aldinger, Kimberly A.
,
Sherr, Elliott H.
,
Argilli, Emanuela
,
England, Eleina M.
,
Audebert-Bellanger, Séverine
,
Bonneau, Dominique
,
Colin, Estelle
,
Denommé-Pichon, Anne-Sophie
,
Gilbert-Dussardier, Brigitte
,
Isidor, Bertrand
,
Küry, Sébastien
,
Odent, Sylvie
,
Redon, Richard
,
Khanna, Rajesh
,
Dobyns, William B.
,
Bézieau, Stéphane
,
Honnorat, Jérôme
,
Lohkamp, Bernhard
,
Toutain, Annick
,
Laumonnier, Frédéric
Published in
American journal of human genetics
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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
by
Dyment, David A.
,
O'Donnell‐Luria, Anne
,
Agrawal, Pankaj B.
,
Coban Akdemir, Zeynep
,
Aleck, Kyrieckos A.
,
Antaki, Danny
,
Al Sharhan, Hind
,
Au, Ping‐Yee B.
,
Aydin, Hatip
,
Beggs, Alan H.
,
Bilguvar, Kaya
,
Boerwinkle, Eric
,
Brand, Harrison
,
Brownstein, Catherine A.
,
Buyske, Steve
,
Chodirker, Bernard
,
Choi, Jungmin
,
Chudley, Albert E.
,
Clericuzio, Carol L.
,
Cox, Gerald F.
,
Curry, Cynthia
,
Boer, Elke
,
Vries, Bert B. A.
,
Dunn, Kathryn
,
Dutmer, Cullen M.
,
England, Eleina M.
,
Fahrner, Jill A.
,
Geckinli, Bilgen B.
,
Genetti, Casie A.
,
Gezdirici, Alper
,
Gibson, William T.
,
Gleeson, Joseph G.
,
Greenberg, Cheryl R.
,
Hall, April
,
Hamosh, Ada
,
Hartley, Taila
,
Jhangiani, Shalini N.
,
Karaca, Ender
,
Kernohan, Kristin
,
Lauzon, Julie L.
,
Lewis, M. E. Suzanne
,
Lowry, R. Brian
,
López‐Giráldez, Francesc
,
Matise, Tara C.
,
McEvoy‐Venneri, Jennifer
,
McInnes, Brenda
,
Mhanni, Aziz
,
Garcia Minaur, Sixto
,
Moilanen, Jukka
,
Nguyen, An
,
Nowaczyk, Malgorzata J. M.
,
Posey, Jennifer E.
,
Õunap, Katrin
,
Pehlivan, Davut
,
Pajusalu, Sander
,
Penney, Lynette S.
,
Poterba, Timothy
,
Prontera, Paolo
,
Doriqui, Maria Juliana Rodovalho
,
Sawyer, Sarah L.
,
Sobreira, Nara
,
Stanley, Valentina
,
Torun, Deniz
,
Wargowski, David
,
Witmer, P. Dane
,
Wong, Isaac
,
Xing, Jinchuan
,
Zaki, Maha S.
,
Zhang, Yeting
,
Boycott, Kym M.
,
Bamshad, Michael J.
,
Nickerson, Deborah A.
,
Blue, Elizabeth E.
,
Innes, A. Micheil
Published in
American journal of medical genetics. Part A
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