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Search Results - Wilkins, Ella Jane
Search Results - Wilkins, Ella Jane
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The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome
by
Fennell, Andrew Paul
,
Baxter, Anne Elizabeth
,
Berkovic, Samuel Frank
,
Ellaway, Carolyn Jane
,
Forwood, Caitlin
,
Hildebrand, Michael Stephen
,
Kumble, Smitha
,
McKeown, Colina
,
Mowat, David
,
Poke, Gemma
,
Rajagopalan, Sulekha
,
Regan, Brigid M.
,
Scheffer, Ingrid Eileen
,
Stark, Zornitza
,
Stutterd, Chloe Alice
,
Tan, Tiong Yang
,
Wilkins, Ella Jane
,
Yeung, Alison
,
Hunter, Matthew Frank
Published in
American journal of medical genetics. Part A
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Expanded Phenotypic and Genetic Heterogeneity in the Clinical Spectrum of FPD-AML: Lymphoid Malignancies and Skin Disorders Are Common Features in Carriers of Germline RUNX1 Mutati...
by
Brown, Anna L
,
Hahn, Christopher N
,
Carmichael, Catherine
,
Wilkins, Ella
,
Babic, Milena
,
Chong, Chan-Eng
,
Li, Xiao-Chun
,
Michaud, Joelle
,
Cannon, Ping
,
Poplawski, Nicola
,
Altree, Meryl
,
Phillips, Kerry
,
Jaensch, Louise
,
Fine, Miriam
,
Schreiber, Andreas W
,
Feng, Jinghua
,
Rawlings, Lesley
,
Vakulin, Cassandra
,
Butcher, Carolyn
,
D'Andrea, Richard
,
Lewis, Ian D
,
Patton, Nigel
,
Forsyth, Cecily
,
Mapp, Sally
,
Mar Fan, Helen
,
Susman, Rachel
,
Morgan, Sue
,
Cooney, Julian
,
Currie, Mark S
,
Popat, Uday R.
,
Bradstock, Kenneth
,
Sorrell, April D.
,
Owen, Carolyn J.
,
Horwitz, Marshall S
,
Hiwase, Devendra
,
Krämer, Alwin
,
Fröhling, Stefan
,
Godley, Lucy A
,
Churpek, Jane E
,
Scott, Hamish S
Published in
Blood
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Journal Title
American Journal Of Medical Genetics. Part A
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Blood
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Subjects
8Q24.3
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Abnormalities, Multiple - Diagnosis
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Abnormalities, Multiple - Genetics
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Congenital Defects
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Craniofacial Spliceosomopathy
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Craniofacial Syndromes
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Eye
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Genetics & Heredity
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Hearing Loss
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Humans
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Intellectual Disabilities
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Intellectual Disability - Diagnosis
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Intellectual Disability - Genetics
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Life Sciences & Biomedicine
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Microcephaly - Diagnosis
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Microcephaly - Genetics
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Microencephaly
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Wiley-Blackwell Journals
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