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Urquhart, Jill
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1

High penetrance of myeloid neoplasia with diverse clinical ..:

Ellingford, Jamie M. ; Telford, Nick ; Urquhart, Jill...
Cancer Genetics.  256-257 (2021)  - p. 77-80 , 2021
Link: https://doi.org/10.1016/..
 
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2

Expanding the genetic and phenotypic spectrum of branched‐c..:

Knerr, Ina ; Colombo, Roberto ; Urquhart, Jill...
Journal of Inherited Metabolic Disease.  42 (2019)  5 - p. 809-817 , 2019
Link: https://doi.org/10.1002/..
 
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3

Phenotypic Heterogeneity in a Congenital Disorder of Glycos..:

Ghosh, Arunabha ; Urquhart, Jill ; Daly, Sarah...
Journal of Child Neurology.  32 (2017)  6 - p. 560-565 , 2017
Link: https://doi.org/10.1177/..
 
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4

Confirmation that mutations in DDX59 cause an autosomal rec..:

Faily, Sara ; Perveen, Rahat ; Urquhart, Jill..
European Journal of Medical Genetics.  60 (2017)  10 - p. 527-532 , 2017
Link: https://doi.org/10.1016/..
 
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5

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Dis..:

Taylor, Rachel L. ; Handley, Mark T. ; Waller, Sarah...
Investigative Opthalmology & Visual Science.  58 (2017)  1 - p. 594 , 2017
Link: https://doi.org/10.1167/..
 
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6

Exploring the genetic basis of 3MC syndrome: Findings in 12..:

Urquhart, Jill ; Roberts, Rebecca ; de Silva, Deepthi...
American Journal of Medical Genetics Part A.  170 (2016)  5 - p. 1216-1224 , 2016
Link: https://doi.org/10.1002/..
 
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7

MiR-204 is responsible for inherited retinal dystrophy asso..:

Conte, Ivan ; Hadfield, Kristen D. ; Barbato, Sara...
Proceedings of the National Academy of Sciences.  112 (2015)  25 - p. , 2015
Link: https://doi.org/10.1073/..
 
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8

MiR-204 is responsible for inherited retinal dystrophy asso..:

Conte, Ivan ; Hadfield, Kristen D. ; Barbato, Sara...
Proceedings of the National Academy of Sciences of the United States of America.  112 (2015)  25 - p. E3236-E3245 , 2015
Link: https://www.jstor.org/st..
 
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9

Tartrate-resistant acid phosphatase deficiency causes a bon..:

Briggs, Tracy A ; Rice, Gillian I ; Daly, Sarah...
Nature Genetics.  43 (2011)  2 - p. 127-131 , 2011
Link: https://doi.org/10.1038/..
 
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10

Newly recognized recessive syndrome characterized by dysmor..:

Jenkinson, Emma M. ; Kingston, Helen ; Urquhart, Jill...
American Journal of Medical Genetics Part A.  155 (2011)  12 - p. 2910-2915 , 2011
Link: https://doi.org/10.1002/..
 
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11

Severe neonatal‐onset panniculitis in a female infant with ..:

Sakthivel, Muthukumar ; Hughes, Stephen M. ; Riley, Phil...
American Journal of Medical Genetics Part A.  155 (2011)  12 - p. 3087-3089 , 2011
Link: https://doi.org/10.1002/..
 
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12

Identification and Characterization of an Inborn Error of M..:

Banka, Siddharth ; Blom, Henk J. ; Walter, John...
The American Journal of Human Genetics.  88 (2011)  2 - p. 216-225 , 2011
Link: https://doi.org/10.1016/..
 
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13

Report of two brothers with short stature, microcephaly, me..:

Phadke, Shubha R. ; Sharda, Sheetal ; Urquhart, Jill...
American Journal of Medical Genetics Part A.  155 (2010)  1 - p. 9-13 , 2010
Link: https://doi.org/10.1002/..
 
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14

Expanding the clinical spectrum of SLC29A3 gene defects:

Spiegel, Ronen ; Cliffe, Simon T. ; Buckley, Michael F....
European Journal of Medical Genetics.  53 (2010)  5 - p. 309-313 , 2010
Link: https://doi.org/10.1016/..
 
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15

4.5 Mb microdeletion in chromosome band 2q33.1 associated w..:

Urquhart, Jill ; Black, Graeme C.M. ; Clayton-Smith, Jill
European Journal of Medical Genetics.  52 (2009)  6 - p. 454-457 , 2009
Link: https://doi.org/10.1016/..
 
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