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1 . Periodical
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
저자
by
Smith, Claire E L
;
Laugel-Haushalter, Virginie
;
Hany, Ummey
;
Best, Sunayna
;
Taylor, Rachel L
, et al.
소스
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 7 p689-698, 10p
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7 . Periodical
Heterozygous COL17A1variants are a frequent cause of amelogenesis imperfecta
저자
by
Hany, Ummey
;
Watson, Christopher M
;
Liu, Lu
;
Smith, Claire E L
;
Harfoush, Asmaa
, et al.
소스
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 4 p347-355, 9p
Full Text (BMJ Journals)
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7 . Periodical
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
저자
by
Best, Sunayna
;
Lord, Jenny
;
Roche, Matthew
;
Watson, Christopher M
;
Poulter, James A
, et al.
소스
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 8 p737-747, 11p
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7 . Academic Journal
A Recessively Inherited Risk Locus on Chromosome 13q22-31 Conferring Susceptibility to Schizophrenia.
저자
by
Mahmood, Tariq
;
El-Asrag, Mohammed E
;
Poulter, James A
;
Cardno, Alastair G
;
Tomlinson, Anneka
, et al.
소스
Schizophrenia Bulletin; May2021, Vol. 47 Issue 3, p796-802, 7p
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7 . Academic Journal
A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.
저자
by
Smith, Claire E L
;
Whitehouse, Laura L E
;
Poulter, James A
;
Hewitt, Laura Wilkinson
;
Nadat, Fatima
, et al.
소스
Human Molecular Genetics; 5/1/2020, Vol. 29 Issue 9, p1417-1425, 9p
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7 . Periodical
Novel loss-of-function mutation in HERC2is associated with severe developmental delay and paediatric lethality
저자
by
Elpidorou, Marilena
;
Best, Sunayna
;
Poulter, James A
;
Hartill, Verity
;
Hobson, Emma
, et al.
소스
Journal of Medical Genetics (JMG); 2021, Vol. 58 Issue: 5 p334-341, 8p
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7 . Periodical
Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta
저자
by
Smith, Claire EL
;
Whitehouse, Laura LE
;
Poulter, James A
;
Brookes, Steven J
;
Day, Peter F
, et al.
소스
European Journal of Human Genetics: EJHG; August 2017, Vol. 25 Issue: 8 p1015-1019, 5p
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7 . Periodical
Spectrum of PEX1 and PEX6 variants in Heimler syndrome
저자
by
Smith, Claire E L
;
Poulter, James A
;
Levin, Alex V
;
Capasso, Jenina E
;
Price, Susan
, et al.
소스
European Journal of Human Genetics: EJHG; November 2016, Vol. 24 Issue: 11 p1565-1571, 7p
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7 . Academic Journal
Patterns of inheritance, not always easily visible
저자
by
Khan, Kamron N
;
Ali, Manir
;
Poulter, James A
;
McKibbin, Martin
;
Inglehearn, Chris F
.
소스
BMJ
. Nov 09, 2013 347:f6610-f6610
Full Text (JSTOR)
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7 . Academic Journal
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.
저자
by
Poulter, James A
;
El-Sayed, Walid
;
Shore, Roger C
;
Kirkham, Jennifer
;
Inglehearn, Chris F
, et al.
소스
European Journal of Human Genetics
. Jan2014, Vol. 22 Issue 1, p132-135. 4p.
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