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1 . Periodical
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India
저자
by
Vishnu, Venugopalan Y.
;
Lemmers, Richard J. L. F.
;
Reyaz, Alisha
;
Mishra, Rinkle
;
Ahmad, Tanveer
, et al.
소스
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-12, 12p
Scopus
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7 . Academic Journal
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.
저자
by
Macken, William L.
;
Falabella, Micol
;
Pizzamiglio, Chiara
;
Woodward, Cathy E.
;
Scotchman, Elizabeth
, et al.
소스
Expert Review of Molecular Diagnostics; Sep2023, Vol. 23 Issue 9, p797-814, 18p
Scopus
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7 . Academic Journal
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
저자
by
Macken, William L.
;
Falabella, Micol
;
McKittrick, Caroline
;
Pizzamiglio, Chiara
;
Ellmers, Rebecca
, et al.
소스
Nature Communications; 11/8/2022, Vol. 13 Issue 1, p1-9, 9p
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7 . Academic Journal
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
저자
by
Poole, Olivia V.
;
Pizzamiglio, Chiara
;
Murphy, David
;
Falabella, Micol
;
Macken, William L.
, et al.
소스
Annals of Neurology
. Jun2021, Vol. 89 Issue 6, p1240-1247. 8p.
Full Text (Wiley)
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7 . Academic Journal
Applying genomic and transcriptomic advances to mitochondrial medicine.
저자
by
Macken, William L.
;
Vandrovcova, Jana
;
Hanna, Michael G.
;
Pitceathly, Robert D. S.
.
소스
Nature Reviews Neurology
. Apr2021, Vol. 17 Issue 4, p215-230. 16p.
Scopus
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6 . Academic Journal
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
저자
by
Macken, William L.
;
Godwin, Annie
;
Wheway, Gabrielle
;
Stals, Karen
;
Nazlamova, Liliya
, et al.
소스
Genome Medicine
. 2/25/2021, Vol. 13 Issue 1, p1-19. 19p.
Open Access (BioMed Central)
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7 . Academic Journal
PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature.
저자
by
Macken, William L.
;
Tischkowitz, Marc
;
Lachlan, Katherine L.
.
소스
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Dec2019, Vol. 181 Issue 4, p591-610, 20p
Scopus
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5 . Periodical
PTENHamartoma tumor syndrome in childhood: A review of the clinical literature
저자
by
Macken, William L.
;
Tischkowitz, Marc
;
Lachlan, Katherine L.
.
소스
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics; December 2019, Vol. 181 Issue: 4 p591-610, 20p
Scopus
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5 . Academic Journal
Percutaneous endoscopic gastrostomy for refractory epilepsy and medication refusal.
저자
by
Howard, Caoimhe
;
Macken, William L.
;
Connolly, Ann
;
Keegan, Maria
;
Coghlan, David
, et al.
소스
Archives of Disease in Childhood; Jul2019, Vol. 104 Issue 7, p690-692, 3p, 2 Charts
Full Text (BMJ Journals)
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7 . Academic Journal
Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications
저자
by
Macken, William L.
;
Lucassen, Anneke M.
;
Hanna, Michael G.
;
Pitceathly, Robert D. S.
.
소스
Nature Reviews Genetics
. 22(9):547-548
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