Source: American Journal of Human Geneticsr-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i PujolinstnameThe American Journal of

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Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

Authors : Ana Berta Sousa; Anneke J.A. Kievit; Marjon van Slegtenhorst ...

Subjects: Male; Glycosylation; Mouse

Source: American Journal of Human Genetics, 108(7), 1342-1349. Cell PressRepositório Científico de Acesso Aberto de PortugalRepositório Científico de Acesso Aberto de Portugal (RCAAP)

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Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia

Authors : Chris Mühlhausen; Lars Schlotawa; Thorsten Marquardt

Subjects: medicine.medical_specialty; congenital, hereditary, and neonatal diseases and abnormalities; lcsh:QH426-470

Source: JIMD ReportsJIMD Reports, Vol 55, Iss 1, Pp 38-43 (2020)

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Case report and review of literature of a rare congenital disorder: Adams-Oliver syndrome

Authors : Jean Daniel Eloy; Mia J. Bertoli; Shridevi Pandya Shah

Subjects: medicine.medical_specialty; medicine.medical_treatment; Limb Deformities, Congenital

Source: BMC Anesthesiology, Vol 21, Iss 1, Pp 1-5 (2021)BMC Anesthesiology

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Congenital disorder of glycosilation PMM2-CDG

Authors : A. A. Kamalova; A. R. Shakirova; M. R. Shaydullina

Subjects: Glycosylation; phosphomannomatase 2; Gene mutation

Source: Rossijskij Vestnik Perinatologii i Pediatrii, Vol 64, Iss 5, Pp 220-225 (2019)

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A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

Authors : Michael Kulik; Deepti M. Warad; Nathalie Seta ...

Subjects: 0301 basic medicine; Adult; Male

Source: American Journal of Human GeneticsAmerican Journal of Human Genetics, 2021, 108 (6), pp.1040-1052. ⟨10.1016/j.ajhg.2021.04.013⟩Am J Hum GenetAmerican Journal of Human Genetics,

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Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

Authors : Elzbieta Czarnowska; Magda Cannata Serio; Pavel Pichurin ...

Subjects: Male; 0301 basic medicine; Biopsy

Source: Hepatology (Baltimore, Md.)Hepatology (Baltimore, Md.), 72(6), 1968-1986. John Wiley and Sons LtdHepatology, 72, 6, pp. 1968-1986Hepatology, 72(6), 1968-1986. WileyHepatology,

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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Authors : Elena Gardella; Damir Musaev; Cecilia Vitali

Subjects: 0301 basic medicine; Male; medicine.medical_specialty

Source: BrainZilmer, M, Edmondson, A C, Khetarpal, S A, Alesi, V, Zaki, M S, Rostasy, K, Madsen, C G, Lepri, F R, Sinibaldi, L, Cusmai, R, Novelli, A, Issa, M Y, Fenger, C D, Jamra, R A, Reutter, H,

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Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5

Authors : Olga Fjodorova; Natalia H. Revelo; Eveline C F Gerretsen ...

Subjects: Gene isoform; Glycosylation; Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2]

Source: Nature Communications, 12Nature CommunicationsNature Communications, Vol 12, Iss 1, Pp 1-15 (2021)Nature Communications, 12, 1Nature Communications, 12(1):6227. Nature

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Identification of Two Novel Mutations in COG5 Causing Congenital Disorder of Glycosylation

Authors : Xiaomeng Li; C H Jin; Xiaoyan Wang

Subjects: 0301 basic medicine; congenital, hereditary, and neonatal diseases and abnormalities; Microcephaly

Source: Frontiers in Genetics, Vol 11 (2020)

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نتائج البحث

فلترة النتائج

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia

Case report and review of literature of a rare congenital disorder: Adams-Oliver syndrome

Congenital disorder of glycosilation PMM2-CDG

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5

Identification of Two Novel Mutations in COG5 Causing Congenital Disorder of Glycosylation

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