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1 . Academic Journal
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)
저자
by
Elouej, Sahar
;
Beleza-Meireles, Ana
;
Caswell, Richard
;
Colclough, Kevin
;
Ellard, Sian
, et al.
소스
In
Metabolism
June 2017 71:213-225
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7 . Academic Journal
“Serpentine-like syndrome”–A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies
저자
by
Beleza-Meireles, Ana
;
Steenhaut, Patricia
;
Hocq, Catheline
;
Clapuyt, Philippe
;
Bernard, Pierre
, et al.
소스
In
European Journal of Medical Genetics
February 2017 60(2):100-104
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7 . Academic Journal
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.
저자
by
Peter, Michelle
;
Mellis, Rhiannon
;
McInnes-Dean, Hannah
;
Daniel, Morgan
;
Walton, Holly
, et al.
소스
Frontiers in Genetics; 2024, p1-14, 14p
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7 . Academic Journal
Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients
저자
by
Beleza-Meireles, Ana
;
Hart, Rachel
;
Clayton-Smith, Jill
;
Oliveira, Renata
;
Reis, Cláudia Falcão
, et al.
소스
In
European Journal of Medical Genetics
September 2015 58(9):455-465
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7 . Academic Journal
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
저자
by
Lu, Shenzhao
;
Ma, Mengqi
;
Mao, Xiao
;
Bacino, Carlos A.
;
Jankovic, Joseph
, et al.
소스
In
The American Journal of Human Genetics
6 October 2022 109(10):1932-1943
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7 . Academic Journal
Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ‐adducin model.
저자
by
Sanchez Marco, Silvia Beatriz
;
Buhl, Edgar
;
Firth, Rose
;
Zhu, Bangfu
;
Gainsborough, Mary
, et al.
소스
Clinical Genetics
. Dec2022, Vol. 102 Issue 6, p494-502. 9p.
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7 . Academic Journal
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
저자
by
Kaw, Anita
;
Kaw, Kaveeta
;
Hostetler, Ellen M.
;
Beleza‐Meireles, Ana
;
Smith‐Collins, Adam
, et al.
소스
American Journal of Medical Genetics. Part A; Aug2022, Vol. 188 Issue 8, p2389-2396, 8p
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7 . Academic Journal
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
저자
by
Sabir, Ataf H.
;
Morley, Elizabeth
;
Sheikh, Jameela
;
Calder, Alistair D.
;
Beleza-Meireles, Ana
, et al.
소스
BMC Medical Genomics
. 12/1/2021, Vol. 14 Issue 1, p1-14. 14p.
Open Access (BioMed Central)
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7 . Academic Journal
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
저자
by
Mannucci, Ilaria
;
Dang, Nghi D. P.
;
Huber, Hannes
;
Murry, Jaclyn B.
;
Abramson, Jeff
, et al.
소스
Genome Medicine
. 6/7/2021, Vol. 13 Issue 1, p1-19. 19p.
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7 . Periodical
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
저자
by
Hammarsjö, Anna
;
Pettersson, Maria
;
Chitayat, David
;
Handa, Atsuhiko
;
Anderlid, Britt-Marie
, et al.
소스
Journal of Human Genetics; October 2021, Vol. 66 Issue: 10 p995-1008, 14p
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