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1 . Academic Journal
A monoallelic UXS1 variant associated with short‐limbed short stature
저자
by
Cecilie F. Rustad
;
Paul Hoff Backe
;
Chunsheng Jin
;
Else Merckoll
;
Kristian Tveten
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
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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)
Open Access (DOAJ)
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7 .
Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites
저자
by
Nicola de Prisco
;
Caitlin Ford
;
Nathan D. Elrod
;
Winston Lee
;
Lauren C. Tang
, et al.
소스
Science Advances
. 9
Open Access (OpenAIRE)
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7 .
Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis
저자
by
Marie F. Smeland
;
Pascal Brouillard
;
Trine Prescott
;
Laurence M Boon
;
Bodil Hvingel
, et al.
소스
Journal of medical genetics, Vol. 60, no. 1, p. 57-64 (2023)
Open Access (OpenAIRE)
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7 .
Positive response to imatinib in
PDGFRB
‐related Kosaki overgrowth syndrome
저자
by
Cecilie F. Rustad
;
Helle Cecilie Viekilde Pfeiffer
;
Kristian Tveten
;
Trine Prescott
;
Cecilie Bredrup
, et al.
소스
American Journal of Medical Genetics Part A
. 185:2597-2601
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7 .
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating
저자
by
Claudia Schob
;
Heidi L. Rehm
;
Johannes R. Lemke
;
Brianna Pruniski
;
Yongqiang Zhang
, et al.
소스
Human Molecular Genetics, 30(23), 2300-2314. OXFORD UNIV PRESS
Hum Mol Genet
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7 .
Prophylactic Allogeneic Hematopoietic Stem Cell Therapy for
CSF1R
‐Related Leukoencephalopathy
저자
by
Morten Andreas Horn
;
Anders Eivind Myhre
;
Trine Prescott
;
Jan Aasly
;
Christina Heidemann Sundal
, et al.
소스
Movement Disorders
. 37:1108-1109
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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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7 .
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
저자
by
Emanuela Scarano
;
Tomasz Stokowy
;
Tzung-Chien Hsieh
;
Florian Erger
;
Janine Altmueller
, et al.
소스
American Journal of Human Genetics, 104, 4, pp. 749-757
American Journal of Human Genetics, 104, 749-757
Full Text (ScienceDirect O/A)
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7 .
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
저자
by
Francesc Palau
;
Flavio Faltera
;
Shivarajan M. Amudhavalli
;
Katherine B. Burke
;
Nicolas Derive
, et al.
소스
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FISABIO. Repositorio Institucional de Producción Científica
instname
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