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1 . Periodical
Comparison of the ABC and ACMG systems for variant classification
저자
by
Houge, Gunnar
;
Bratland, Eirik
;
Aukrust, Ingvild
;
Tveten, Kristian
;
Žukauskaitė, Gabrielė
, et al.
소스
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-6, 6p
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7 . Dissertation/ Thesis
The health and care of children with Down Syndrome
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by
McKenna, Caoimhe
.
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3 . Academic Journal
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation
저자
by
Odgerel, Zagaa
;
Sarkozy, Anna
;
Lee, Hee-Suk
;
McKenna, Caoimhe
;
Rankin, Julia
, et al.
소스
In
Neuromuscular Disorders
2010 20(7):438-442
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7 . Academic Journal
Mapping Two Decades of Paediatric Down Syndrome Research Literature.
저자
by
McKenna, Caoimhe
;
Schilder, Anne
;
Xue Ning Lee, Rachel
;
Manikam, Logan
;
Venekamp, Roderick
, et al.
소스
Ulster Medical Journal; May2023, Vol. 92 Issue 2, p77-83, 7p
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7 . Academic Journal
Prenatal genomic testing for ultrasound‐detected fetal structural anomalies.
저자
by
Reilly, Kelly
;
McKenna, Caoimhe
;
McCullough, Simon
;
McKee, Shane
;
Mone, Fionnuala
.
소스
Obstetrician & Gynaecologist
. Apr2023, Vol. 25 Issue 2, p121-130. 10p.
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7 . Periodical
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
저자
by
Palmer, Elizabeth E.
;
Pusch, Michael
;
Picollo, Alessandra
;
Forwood, Caitlin
;
Nguyen, Matthew H.
, et al.
소스
Molecular Psychiatry; February 2023, Vol. 28 Issue: 2 p668-697, 30p
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7 . Academic Journal
A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland.
저자
by
Kerr, Katie
;
McKenna, Caoimhe
;
Heggarty, Shirley
;
Bailie, Caitlin
;
McMullan, Julie
, et al.
소스
Genes
. Jul2022, Vol. 13 Issue 7, p1104-1104. 22p.
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7 . Academic Journal
Presentation and Investigation of Pediatric Bone and Joint Infections in the Pediatric Emergency Department.
저자
by
Akinkugbe, Olugbenga
;
Stewart, Charles
;
McKenna, Caoimhe
.
소스
Pediatric Emergency Care; Oct2019, Vol. 35 Issue 10, p700-704, 5p
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5 . Academic Journal
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
저자
by
Muir, Alison M.
;
Gardner, Jennifer F.
;
van Jaarsveld, Richard H.
;
de Lange, Iris M.
;
van der Smagt, Jasper J.
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 23(5):881-887
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7 . Academic Journal
Increased household financial strain, the Great Recession and child health--findings from the UK Millennium Cohort Study.
저자
by
McKenna, Caoimhe
;
Law, Catherine
;
Pearce, Anna
.
소스
BMJ Open; 3/1/2017, Vol. 7, p1-7, 7p
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