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Search Results - SADIGHI AKHA, Elham
Search Results - SADIGHI AKHA, Elham
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Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development
by
Lise, Stefano
,
Clarkson, Yvonne
,
Perkins, Emma
,
Kwasniewska, Alexandra
,
Sadighi Akha, Elham
,
Schnekenberg, Ricardo Parolin
,
Suminaite, Daumante
,
Hope, Jilly
,
Baker, Ian
,
Gregory, Lorna
,
Green, Angie
,
Allan, Chris
,
Lamble, Sarah
,
Jayawant, Sandeep
,
Quaghebeur, Gerardine
,
Cader, M Zameel
,
Hughes, Sarah
,
Armstrong, Richard J E
,
Kanapin, Alexander
,
Rimmer, Andrew
,
Lunter, Gerton
,
Mathieson, Iain
,
Cazier, Jean-Baptiste
,
Buck, David
,
Taylor, Jenny C
,
Bentley, David
,
McVean, Gilean
,
Donnelly, Peter
,
Knight, Samantha J L
,
Jackson, Mandy
,
Ragoussis, Jiannis
,
Németh, Andrea H
Published in
PLoS genetics
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The autophagy protein Atg7 is essential for hematopoietic stem cell maintenance
by
Mortensen, Monika
,
Soilleux, Elizabeth J
,
Djordjevic, Gordana
,
Tripp, Rebecca
,
Lutteropp, Michael
,
Sadighi-Akha, Elham
,
Stranks, Amanda J
,
Glanville, Julie
,
Knight, Samantha
,
Jacobsen, Sten-Eirik W
,
Kranc, Kamil R
,
Simon, Anna Katharina
Published in
The Journal of experimental medicine
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Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes
by
Twigg, Stephen R.F.
,
Babbs, Christian
,
van den Elzen, Marijke E.P.
,
Goriely, Anne
,
Taylor, Stephen
,
McGowan, Simon J.
,
Giannoulatou, Eleni
,
Lonie, Lorne
,
Ragoussis, Jiannis
,
Akha, Elham Sadighi
,
Knight, Samantha J.L.
,
Zechi-Ceide, Roseli M.
,
Hoogeboom, Jeannette A.M.
,
Pober, Barbara R.
,
Toriello, Helga V.
,
Wall, Steven A.
,
Rita Passos-Bueno, M.
,
Brunner, Han G.
,
Mathijssen, Irene M.J.
,
Wilkie, Andrew O.M.
Published in
Human molecular genetics
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A 15q13.3 microdeletion segregating with autism
by
PAGNAMENTA, Alistair T
,
WING, Kirsty
,
RAGOUSSIS, Jiannis
,
BAILEY, Anthony J
,
MONACO, Anthony P
,
SADIGHI AKHA, Elham
,
KNIGHT, Samantha J. L
,
BÖLTE, Sven
,
SCHMÖTZER, Gabriele
,
DUKETIS, Eftichia
,
POUSTKA, Fritz
,
KLAUCK, Sabine M
,
POUSTKA, Annemarie
Published in
European journal of human genetics : EJHG
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Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes
by
Twigg, Stephen R F
,
Babbs, Christian
,
van den Elzen, Marijke E P
,
Goriely, Anne
,
Taylor, Stephen
,
McGowan, Simon J
,
Giannoulatou, Eleni
,
Lonie, Lorne
,
Ragoussis, Jiannis
,
Sadighi Akha, Elham
,
Knight, Samantha J L
,
Zechi-Ceide, Roseli M
,
Hoogeboom, Jeannette A M
,
Pober, Barbara R
,
Toriello, Helga V
,
Wall, Steven A
,
Rita Passos-Bueno, M
,
Brunner, Han G
,
Mathijssen, Irene M J
,
Wilkie, Andrew O M
Published in
Human molecular genetics
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Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder
by
Newbury, Dianne F
,
Mari, Francesca
,
Sadighi Akha, Elham
,
Macdermot, Kay D
,
Canitano, Roberto
,
Monaco, Anthony P
,
Taylor, Jenny C
,
Renieri, Alessandra
,
Fisher, Simon E
,
Knight, Samantha J L
Published in
European journal of human genetics : EJHG
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A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss
by
Pagnamenta, Alistair T.
,
Murray, Jennie E.
,
Yoon, Grace
,
Akha, Elham Sadighi
,
Harrison, Victoria
,
Bicknell, Louise S.
,
Ajilogba, Kaseem
,
Stewart, Helen
,
Kini, Usha
,
Taylor, Jenny C.
,
Keays, David A.
,
Jackson, Andrew P.
,
Knight, Samantha J.L.
Published in
American journal of medical genetics. Part A
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Recessive Mutations in SPTBN2 Implicate [beta]-III Spectrin in Both Cognitive and Motor Development
by
Lise, Stefano
,
Clarkson, Yvonne
,
Perkins, Emma
,
Kwasniewska, Alexandra
,
Akha, Elham Sadighi
,
Schnekenberg, Ricardo Parolin
,
Suminaite, Daumante
,
Hope, Jilly
,
Baker, Ian
,
Gregory, Lorna
,
Green, Angie
,
Allan, Chris
,
Lamble, Sarah
,
Jayawant, Sandeep
,
Quaghebeur, Gerardine
,
Cader, M Zameel
,
Hughes, Sarah
,
Armstrong, Richard JE
,
Kanapin, Alexander
,
Rimmer, Andrew
,
Lunter, Gerton
,
Mathieson, Iain
,
Cazier, Jean-Baptiste
,
Buck, David
,
Taylor, Jenny C
,
Bentley, David
,
McVean, Gilean
,
Donnelly, Peter
,
Knight, Samantha JL
,
Jackson, Mandy
,
Ragoussis, Jiannis
,
Németh, Andrea H
Published in
PLoS genetics
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Article
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9
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The autophagy protein Atg7 is essential for hematopoietic stem cell maintenance
by
Mortensen, Monika
,
Soilleux, Elizabeth J.
,
Djordjevic, Gordana
,
Tripp, Rebecca
,
Lutteropp, Michael
,
Sadighi-Akha, Elham
,
Stranks, Amanda J.
,
Glanville, Julie
,
Knight, Samantha
,
Jacobsen, Sten-Eirik W.
,
Kranc, Kamil R.
,
Simon, Anna Katharina
Published in
The Journal of cell biology
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10
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Identification of Novel Recurrent Copy Number Variations and Regions of Copy-Neutral Loss of Heterozygosity by High Resolution Genomic Array in Pre-Treatment and Relapsed B-CLL
by
Knight, Samantha JL
,
Sadighi Akha, Elham
,
Timbs, Adele
,
Enver, Tariq
,
Pettitt, Andrew R
,
Taylor, Jenny
,
Hatton, Chris S
,
Schuh, Anna
Published in
Blood
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A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss
by
Pagnamenta, Alistair T.
,
Murray, Jennie E.
,
Yoon, Grace
,
Akha, Elham Sadighi
,
Harrison, Victoria
,
Bicknell, Louise S.
,
Ajilogba, Kaseem
,
Stewart, Helen
,
Kini, Usha
,
Taylor, Jenny C.
,
Keays, David A.
,
Jackson, Andrew P.
,
Knight, Samantha J.L.
Published in
American Journal of Medical Genetics Part A
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