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Author/Creator Smithson, Sarah F

1. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. Issue 5 (1st March 2013)

Authors:
Schmidts, Miriam; Arts, Heleen H; Bongers, Ernie M H F; Yap, Zhimin; Oud, Machteld M; Antony, Dinu; Duijkers, Lonneke; Emes, Richard D; Stalker, Jim; Yntema, Jan-Bart L; Plagnol, Vincent; Hoischen, Alexander; Gilissen, Christian; Forsythe, Elisabeth; Lausch, Ekkehart; Veltman, Joris A; Roeleveld,...
Other Names:
contributor.
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 5(2013)
Page Start:
309
Record Type:
Journal Article
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2. Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly. Issue 4 (5th April 2021)

Authors:
Drissi, Ichrak; Fletcher, Emily; Shaheen, Ranad; Nahorski, Michael; Alhashem, Amal M; Lisgo, Steve; Fernández-Jaén, Alberto; Schon, Katherine; Tlili-Graiess, Kalthoum; Smithson, Sarah F; Lindsay, Susan; J Sharpe, Hayley; Alkuraya, Fowzan S; Woods, Geoff
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 4(2022)
Page Start:
358
Record Type:
Journal Article
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3. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. Issue 2 (2nd November 2017)

Authors:
Reijnders, Margot R F; Janowski, Robert; Alvi, Mohsan; Self, Jay E; van Essen, Ton J; Vreeburg, Maaike; Rouhl, Rob P W; Stevens, Servi J C; Stegmann, Alexander P A; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T R M; Bok, Levinus A; Cobben, Jan Maarten; Enge...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 2(2018)
Page Start:
104
Record Type:
Journal Article
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4. Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study. (3rd November 2021)

Authors:
Schon, Katherine R; Horvath, Rita; Wei, Wei; Calabrese, Claudia; Tucci, Arianna; Ibañez, Kristina; Ratnaike, Thiloka; Pitceathly, Robert D S; Bugiardini, Enrico; Quinlivan, Rosaline; Hanna, Michael G; Clement, Emma; Ashton, Emma; Sayer, John A; Brennan, Paul; Josifova, Dragana; Izatt, Louise; Fra...
Other Names:
author non-byline.; Ambrose John C author non-byline.; Arumugam Prabhu author non-byline.; Bevers Roel author non-byline.; Bleda Marta author non-byline.; Boardman-Pretty Freya author non-byline.; Boustred Christopher R author non-byline.; Brittain Helen author non-byline.; Caulfield Mark J auth...
Journal:
BMJ
Issue:
Volume 375(2021)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗