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1 . Academic Journal
Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies
저자
by
Suzanne M. Nevin
;
Claire E. Wakefield
;
Ann Dadich
;
Fleur LeMarne
;
Rebecca Macintosh
, et al.
소스
PEC Innovation, Vol 1, Iss , Pp 100014- (2022)
Full Text (Clinical Key)
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7 . Academic Journal
Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocol
저자
by
Stephanie Best
;
Elizabeth E Palmer
;
Lauren Kelada
;
Rani Sachdev
;
Eden G Robertson
, et al.
소스
BMJ Open, Vol 12, Iss 10 (2022)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Familial DHCR7 genotype presenting as a very mild form of Smith‐Lemli‐Opitz syndrome and lethal holoprosencephaly
저자
by
Suzanna E. L. Temple
;
Rani Sachdev
;
Carolyn Ellaway
.
소스
JIMD Reports, Vol 56, Iss 1, Pp 3-8 (2020)
Open Access (Wiley)
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5 . Academic Journal
SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome
저자
by
Chiara Migliore
;
Anna Vendramin
;
Shane McKee
;
Paolo Prontera
;
Francesca Faravelli
, et al.
소스
Genes, Vol 13, Iss 2, p 252 (2022)
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7 . Academic Journal
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome
저자
by
Vinod Dagar
;
Wendy Hutchison
;
Andrea Muscat
;
Anita Krishnan
;
David Hoke
, et al.
소스
Clinical Epigenetics, Vol 10, Iss 1, Pp 1-13 (2018)
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7 . Academic Journal
A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy
저자
by
Sushmitha Gururaj
;
Elizabeth Emma Palmer
;
Garrett D. Sheehan
;
Tejaswi Kandula
;
Rebecca Macintosh
, et al.
소스
Cell Reports, Vol 21, Iss 4, Pp 926-933 (2017)
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7 . Academic Journal
Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX
저자
by
Alison Pandelache
;
David Francis
;
Ralph Oertel
;
Rebecca Dickson
;
Rani Sachdev
, et al.
소스
Genes, Vol 12, Iss 6, p 798 (2021)
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7 .
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly
저자
by
Margaux Serey-Gaut
;
Marisol Cortes
;
Periklis Makrythanasis
;
Mohnish Suri
;
Alexander M.R. Taylor
, et al.
소스
The American Journal of Human Genetics
. 110:499-515
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7 .
Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty
저자
by
Elizabeth E Palmer
;
Rani Sachdev
;
Erin Beavis
;
Rebecca Macintosh
;
Fleur A Le Marne
, et al.
소스
Journal of Paediatrics and Child Health
. 58:1718-1721
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7 .
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
저자
by
Elizabeth E. Palmer
;
Michael Pusch
;
Alessandra Picollo
;
Caitlin Forwood
;
Matthew H. Nguyen
, et al.
소스
Molecular Psychiatry, 28, 668-697
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATURE
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