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11 . Academic Journal
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
저자
by
Boer, Elke de
;
Cohen, Enzo
;
Cuesta, Isabel
;
Danis, Daniel
;
Denommé-Pichon, Anne-Sophie
, et al.
소스
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European Journal of Medical Genetics
January 2022 65(1)
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17 . Academic Journal
The adaptive functioning profile of Pitt-Hopkins syndrome
저자
by
Pearson, Effie
;
Watkins, Alice
;
Oliver, Chris
;
Karim, Amna
;
Clayton-Smith, Jill
, et al.
소스
In
European Journal of Medical Genetics
September 2021 64(9)
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17 . Academic Journal
Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations
저자
by
Madhu, Rajesh
;
Beaman, Glenda M.
;
Chandler, Kate E.
;
O'Sullivan, James
;
Urquhart, Jill E.
, et al.
소스
In
European Journal of Medical Genetics
September 2020 63(9)
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17 . Academic Journal
Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome
저자
by
Pei, Yang
;
Beaman, Glenda M.
;
Mansfield, David
;
Clayton-Smith, Jill
;
Stewart, Murray
, et al.
소스
In
European Journal of Medical Genetics
June 2019 62(6)
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17 . Academic Journal
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
저자
by
Bakshi, Madhura
;
Wilson, Meredith
;
Berman, Yemina
;
Dickson, Rebecca
;
Fransen, Erik
, et al.
소스
In
Biological Psychiatry
15 February 2019 85(4):287-297
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17 . Academic Journal
Monotherapy treatment of epilepsy in pregnancy: Congenital malformation outcomes in the child
저자
by
Khanom, Sonia
;
Adab, Naghme
;
Bluett-Duncan, Matthew
;
Clayton-Smith, Jill
;
Christensen, Jakob
, et al.
소스
In
Neurotoxicology and Teratology
July-August 2023 98
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17 . Academic Journal
Neurodevelopmental outcomes in children and adults with Fetal Valproate Spectrum Disorder: A contribution from the ConcePTION project
저자
by
Bluett-Duncan, Matthew
;
Astill, Denise
;
Charbak, Rana
;
Clayton-Smith, Jill
;
Cole, Susan
, et al.
소스
In
Neurotoxicology and Teratology
July-August 2023 98
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17 . Academic Journal
Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families
저자
by
Faily, Sara
;
Perveen, Rahat
;
Urquhart, Jill
;
Chandler, Kate
;
Clayton-Smith, Jill
.
소스
In
European Journal of Medical Genetics
October 2017 60(10):527-532
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17 . Academic Journal
Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients
저자
by
Beleza-Meireles, Ana
;
Hart, Rachel
;
Clayton-Smith, Jill
;
Oliveira, Renata
;
Reis, Cláudia Falcão
, et al.
소스
In
European Journal of Medical Genetics
September 2015 58(9):455-465
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17 . Academic Journal
Fetal antiepileptic drug exposure and cognitive outcomes at age 6 years (NEAD study): a prospective observational study
저자
by
Meador, Kimford J
;
Baker, Gus A
;
Browning, Nancy
;
Cohen, Morris J
;
Bromley, Rebecca L
, et al.
소스
In
Lancet Neurology
March 2013 12(3):244-252
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