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1 . Academic Journal
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
저자
by
Pagnamenta, Alistair T.
;
Yu, Jing
;
Walker, Susan
;
Noble, Alexandra J.
;
Lord, Jenny
, et al.
소스
In
The American Journal of Human Genetics
6 June 2024 111(6):1140-1164
Full Text (ScienceDirect)
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7 . Periodical
VAMP2Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders
저자
by
Bogue, Danielle
;
Ryan, Gavin
;
Wassmer, Evangeline
;
Naik, Swati
.
소스
Molecular Syndromology; October 2023, Vol. 14 Issue: 5 p449-456, 8p
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6 . Academic Journal
VAMP2 Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders.
저자
by
Bogue, Danielle
;
Ryan, Gavin
;
Wassmer, Evangeline
;
Naik, Swati
.
소스
Molecular Syndromology; 2023, Vol. 14 Issue 5, p449-456, 8p
Scopus
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6 . Academic Journal
Prenatal diagnosis of CLCN4‐related neurodevelopmental disorder in fetuses with congenital brain anomalies.
저자
by
Lam, Zena
;
Wall, Elizabeth
;
Ryan, Gavin
;
Barber, Richard
;
Kilby, Mark D.
, et al.
소스
Prenatal Diagnosis; Aug2023, Vol. 43 Issue 9, p1247-1250, 4p
Scopus
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7 . Academic Journal
Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.
저자
by
Jackson, Adam
;
Moss, Celia
;
Chandler, Kate E
;
Balboa, Pablo Lopez
;
Bageta, Maria L
, et al.
소스
British Journal of Dermatology
. Jan2023, Vol. 188 Issue 1, p75-83. 9p.
Full Text (OUP)
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7 . Academic Journal
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.
저자
by
Han, Ji Hoon
;
Ryan, Gavin
;
Guy, Alyson
;
Liu, Lu
;
Quinodoz, Mathieu
, et al.
소스
Human Molecular Genetics; 6/15/2022, Vol. 31 Issue 12, p1970-1978, 9p
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7 . Dissertation/ Thesis
The role of PTTG, PBF, p53 and MDM2 in thyroid cancer
저자
by
Ryan, Gavin
.
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3 . Academic Journal
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
저자
by
Foster, Alison
;
Chalot, Basile
;
Antoniadi, Thalia
;
Schaefer, Elise
;
Keelagher, Rebecca
, et al.
소스
Clinical Genetics
. Jul2020, Vol. 98 Issue 1, p19-31. 13p. 3 Color Photographs, 1 Black and White Photograph, 2 Diagrams, 1 Chart.
Scopus
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7 . Academic Journal
A resilient and luminescent stimuli-responsive hydrogel from a heterotopic 1,8-naphthalimide-derived ligand.
저자
by
Hawes, Chris S.
;
Lynes, Amy D.
;
Byrne, Kevin
;
Schmitt, Wolfgang
;
Ryan, Gavin
, et al.
소스
Chemical Communications
. 6/4/2017, Vol. 53 Issue 44, p5989-5992. 4p.
Full Text (RSC Gold)
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7 . Academic Journal
Sensitive electromechanical sensors using viscoelastic graphene-polymer nanocomposites.
저자
by
Boland, Conor S.
;
Khan, Umar
;
Ryan, Gavin
;
Barwich, Sebastian
;
Charifou, Romina
, et al.
소스
Science
. 12/9/2016, Vol. 354 Issue 6317, p1257-1260. 4p. 4 Graphs.
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