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1 . Academic Journal
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
저자
by
Borras, Silvia
;
Clark, Caroline
;
Dean, John
;
Miedzybrodzka, Zosia
;
Ross, Alison
, et al.
소스
In
Genetics in Medicine
February 2024 26(2)
Full Text (ScienceDirect)
Web of Science
Scopus
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7 . Academic Journal
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients
저자
by
Hamad, Asma
;
Sherlaw-Sturrock, Charlotte A.
;
Glover, Kate
;
Salmon, Rachel
;
Low, Karen
, et al.
소스
In
European Journal of Medical Genetics
April 2023 66(4)
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7 . Academic Journal
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study
저자
by
Adams, Lisa
;
Adlard, Julian
;
Alfonso, Rosa
;
Ali, Saira
;
Andrew, Angela
, et al.
소스
In
The Lancet Oncology
November 2021 22(11):1618-1631
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7 . Academic Journal
Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis.
저자
by
Wai, Htoo A.
;
Constable, Matthew
;
Drewes, Cosima
;
Davies, Ian C.
;
Svobodova, Eliska
, et al.
소스
Human Mutation; Jul2022, Vol. 43 Issue 7, p963-970, 8p
Web of Science
Scopus
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7 . Dissertation/ Thesis
Derivation of a psychosocial clinical prediction rule to target sexual healthcare among women of reproductive age attending British General Practices
저자
by
Edelman, Natalie
;
Cassell, Jackie A.
;
Mercer, Catherine
;
de-Visser, Richard
.
소스
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6 . Dissertation/ Thesis
Molecular genetic investigation of left ventricular outflow tract obstruction
저자
by
Mercer, Catherine
;
Wilson, David
;
O'kelly, Ita
;
Lucassen, Anneke
.
소스
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6 . Academic Journal
The Positive Choices trial: study protocol for a Phase-III RCT trial of a whole-school social marketing intervention to promote sexual health and reduce health inequalities.
저자
by
Ponsford, Ruth
;
Meiksin, Rebecca
;
Allen, Elizabeth
;
Melendez-Torres, G. J.
;
Morris, Steve
, et al.
소스
Trials
. 11/17/2021, Vol. 22 Issue 1, p1-19. 19p. 2 Diagrams, 1 Chart.
Open Access (BioMed Central)
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7 . Academic Journal
Mortality and AIDS‐defining events among young people following transition from paediatric to adult HIV care in the UK.
저자
by
Asad, H
;
Collins, IJ
;
Goodall, RL
;
Crichton, S
;
Hill, T
, et al.
소스
HIV Medicine
. Sep2021, Vol. 22 Issue 8, p631-640. 10p.
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7 . Academic Journal
The Positive Choices trial: update to study protocol for a phase-III RCT trial of a whole-school social-marketing intervention to promote sexual health and reduce health inequalities.
저자
by
Ponsford, Ruth
;
Meiksin, Rebecca
;
Allen, Elizabeth
;
Melendez-Torres, G. J.
;
Morris, Steve
, et al.
소스
Trials
. 4/11/2022, Vol. 23 Issue 1, p1-3. 3p.
Open Access (BioMed Central)
Web of Science
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7 . Academic Journal
A school-based social-marketing intervention to promote sexual health in English secondary schools: the Positive Choices pilot cluster RCT.
저자
by
Ponsford, Ruth
;
Bragg, Sara
;
Allen, Elizabeth
;
Tilouche, Nerissa
;
Meiksin, Rebecca
, et al.
소스
Public Health Research; 1/19/2021, Vol. 9 Issue 1, p1-189, 223p
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