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1 . Academic Journal
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences
저자
by
Michelle Peter
;
Rhiannon Mellis
;
Hannah McInnes-Dean
;
Morgan Daniel
;
Holly Walton
, et al.
소스
Frontiers in Genetics, Vol 15 (2024)
Open Access (DOAJ)
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7 . Academic Journal
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era
저자
by
Ataf H. Sabir
;
Elizabeth Morley
;
Jameela Sheikh
;
Alistair D. Calder
;
Ana Beleza-Meireles
, et al.
소스
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)
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7 . Academic Journal
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
저자
by
Ilaria Mannucci
;
Nghi D. P. Dang
;
Hannes Huber
;
Jaclyn B. Murry
;
Jeff Abramson
, et al.
소스
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Open Access (BioMed Central)
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7 . Academic Journal
Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease
저자
by
Scott E. Youlten
;
John P. Kemp
;
John G. Logan
;
Elena J. Ghirardello
;
Claudio M. Sergio
, et al.
소스
Nature Communications, Vol 12, Iss 1, Pp 1-21 (2021)
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7 .
Hereditary spastic paraparesis presenting as cerebral palsy due to
ADD3
variant with mechanistic insight provided by a Drosophila γ‐adducin model
저자
by
Silvia Beatriz Sanchez Marco
;
Edgar Buhl
;
Rose Firth
;
Bangfu Zhu
;
Mary Gainsborough
, et al.
소스
Clinical Genetics
. 102:494-502
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7 .
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
저자
by
Shenzhao Lu
;
Mengqi Ma
;
Xiao Mao
;
Carlos A. Bacino
;
Joseph Jankovic
, et al.
소스
Am J Hum Genet
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7 .
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation
저자
by
Marion Coolen
;
Nami Altin
;
Karthyayani Rajamani
;
Eva Pereira
;
Karine Siquier-Pernet
, et al.
소스
American Journal of Human Genetics
American Journal of Human Genetics, 2022, ⟨10.1016/j.ajhg.2022.03.010⟩
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7 .
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome
저자
by
Anita Kaw
;
Kaveeta Kaw
;
Ellen M. Hostetler
;
Ana Beleza‐Meireles
;
Adam Smith‐Collins
, et al.
소스
American journal of medical genetics. Part A
. 188(8)
Scopus
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7 .
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era
저자
by
Melita Irving
;
Moira Cheung
;
Ana Beleza-Meireles
;
Christine Hall
;
Yogen Patel
, et al.
소스
BMC Medical Genomics
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)
Open Access (OpenAIRE)
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7 .
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
저자
by
Nghi Dang
;
Jonas Denecke
;
Jaclyn B. Murry
;
Laurence A. Bindoff
;
Tatjana Bierhals
, et al.
소스
Genome Medicine, 13, 1
Genome Medicine, 13(1):90. BioMed Central Ltd
Genome Medicine, 13
Genome medicine, vol 13, iss 1
Mannucci, I, Dang, N D P, Huber, H, Murry, J B, Abramson, J, Althoff, T, Banka, S, Baynam, G, Bearden, D, Beleza-Meireles, A, Benke, P J, Berland, S, Bierhals, T, Bilan, F, Bindoff, L A, Braathen, G J, Busk, Ø L, Chenbhanich, J, Denecke, J, Escobar, L F, Estes, C, Fleischer, J, Groepper, D, Haaxma, C A, Hempel, M, Holler-Managan, Y, Jackson, A, Kellogg, L, Keren, B, Kiraly-Borri, C, Kraus, C, Kubisch, C, Le Guyader, G, Ljungblad, U W, Brenman, L M, Martinez-Agosto, J A, Might, M, Miller, D T, Minks, K Q, Moghaddam, B, Nava, C, Nelson, S F, Parant, J M, Prescott, T, Rajabi, F, Randrianaivo, H, Reiter, S F, Schuurs-Hoeijmakers, J, Shieh, P B, Slavotinek, A, Stegmann, A P A, Tomczak, K, Tveten, K, Wang, J, Whitlock, J H, Zweier, C, McWalter, K, Juusola, J, Quintero-Rivera, F, Fischer, U, Yeo, N C, Kreienkamp, H-J & Lessel, D 2021, ' Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders ', Genome Medicine, vol. 13, no. 1, 90 . https://doi.org/10.1186/s13073-021-00900-3
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Genome Medicine
Mannucci, Ilaria; Dang, Nghi D P; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; ... (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine, 13(1), p. 90. BioMed Central 10.1186/s13073-021-00900-3
Open Access (BioMed Central)
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