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Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
by
Murray, Jennie E.
,
Bicknell, Louise S.
,
Yigit, Gökhan
,
Duker, Angela L.
,
van Kogelenberg, Margriet
,
Haghayegh, Sara
,
Wieczorek, Dagmar
,
Kayserili, Hülya
,
Albert, Michael H.
,
Wise, Carol A.
,
Brandon, January
,
Kleefstra, Tjitske
,
Warris, Adilia
,
van der Flier, Michiel
,
Bamforth, J. Steven
,
Doonanco, Kurston
,
Adès, Lesley
,
Ma, Alan
,
Field, Michael
,
Johnson, Diana
,
Shackley, Fiona
,
Firth, Helen
,
Woods, C. Geoffrey
,
Nürnberg, Peter
,
Gatti, Richard A.
,
Hurles, Matthew
,
Bober, Michael B.
,
Wollnik, Bernd
,
Jackson, Andrew P.
Published in
Human mutation
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Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations
by
Vanderver, Adeline
,
Tonduti, Davide
,
Kahn, Ilana
,
Schmidt, Johanna
,
Medne, Livija
,
Vento, Jodie
,
Chapman, Kimberly A.
,
Lanpher, Brendan
,
Pearl, Phillip
,
Gropman, Andrea
,
Lourenco, Charles
,
Bamforth, John-Steven
,
Sharpe, Cynthia
,
Pineda, Mercédes
,
Schallner, Jens
,
Bodamer, Olaf
,
Orcesi, Simona
,
Oberstein, Saskia A. J. Lesnik
,
Sistermans, Erik A.
,
Yntema, Helger G.
,
Bonnemann, Carsten
,
Waldman, Amy T.
,
van der Knaap, Marjo S.
Published in
American journal of medical genetics. Part A
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Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome
by
Yobb, Twila M.
,
Somerville, Martin J.
,
Willatt, Lionel
,
Firth, Helen V.
,
Harrison, Karen
,
MacKenzie, Jennifer
,
Gallo, Natasha
,
Morrow, Bernice E.
,
Shaffer, Lisa G.
,
Babcock, Melanie
,
Chernos, Judy
,
Bernier, Francois
,
Sprysak, Kathy
,
Christiansen, Jesse
,
Haase, Shelagh
,
Elyas, Basil
,
Lilley, Margaret
,
Bamforth, Steven
,
McDermid, Heather E.
Published in
American journal of human genetics
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The different effects on cranial and trunk neural crest cell behaviour following exposure to a low concentration of alcohol in vitro
by
Czarnobaj, Joanna
,
Bagnall, Keith M
,
Bamforth, J. Steven
,
Milos, Nadine C
Published in
Archives of oral biology
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Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes
by
Asai-Coakwell, Mika
,
French, Curtis R.
,
Ye, Ming
,
Garcha, Kamal
,
Bigot, Karin
,
Perera, Anoja G.
,
Staehling-Hampton, Karen
,
Mema, Silvina C.
,
Chanda, Bhaskar
,
Mushegian, Arcady
,
Bamforth, Steven
,
Doschak, Michael R.
,
Li, Guang
,
Dobbs, Matthew B.
,
Giampietro, Philip F.
,
Brooks, Brian P.
,
Vijayalakshmi, Perumalsamy
,
Sauvé, Yves
,
Abitbol, Marc
,
Sundaresan, Periasamy
,
van Heyningen, Veronica
,
Pourquié, Olivier
,
Underhill, T. Michael
,
Waskiewicz, Andrew J.
,
Lehmann, Ordan J.
Published in
Human molecular genetics
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Global Developmental Delay, Progressive Relapsing-Remitting Parkinsonism, and Spinal Syrinx in a Child With SOX6 Mutation
by
Scott, Ori
,
Pugh, Jeffrey
,
Kiddoo, Darcie
,
Sonnenberg, Lyn K.
,
Bamforth, Steven
,
Goez, Helly R.
Published in
Journal of child neurology
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Homozygosity mapping in an anophthalmic pedigree provides evidence of additional genetic heterogeneity
by
Khorshidi, Azam
,
Russell, Laurie
,
Bamforth, Steven
,
Drummond, Garry
,
Johnson, Royce
,
Lehmann, Ordan J.
Published in
Ophthalmic genetics
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Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
Published in
Human mutation
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Human Serum Metabolome
by
Psychogios, Nikolaos
,
Hau, David D
,
Peng, Jun
,
Guo, An Chi
,
Mandal, Rupasri
,
Bouatra, Souhaila
,
Sinelnikov, Igor
,
Krishnamurthy, Ramanarayan
,
Eisner, Roman
,
Gautam, Bijaya
,
Young, Nelson
,
Xia, Jianguo
,
Knox, Craig
,
Dong, Edison
,
Huang, Paul
,
Hollander, Zsuzsanna
,
Pedersen, Theresa L
,
Smith, Steven R
,
Bamforth, Fiona
,
Greiner, Russ
,
McManus, Bruce
,
Newman, John W
,
Goodfriend, Theodore
,
Wishart, David S
,
Flower, Darren
Published in
PloS one
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Internal Displacement in Burma
by
Lanjouw, Steven
,
Mortimer, Graham
,
Bamforth, Vicky
Published in
Disasters
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Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256→Val); Pi Mmalton (Phe51→deletion) and Pi I (Arg39→Cys)...
by
GRAHAM, A
,
KALSHEKER, N. A
,
NEWTON, C. R
,
BAMFORTH, F. J
,
POWELL, S. J
,
MARKHAM, A. F
Published in
Human genetics
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North America
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