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Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals

• Authors : Fernando Santos-Simarro; Aude Annick Suter; Uwe Kornak ...

Subjects: Adult; bronchomalacia; 2716 Genetics (clinical)

• Source: American Journal of Medical Genetics Part ASuter, A A, Santos-Simarro, F, Toerring, P M, Abad Perez, A, Ramos-Mejia, R, Heath, K E, Huckstadt, V, Parrón-Pajares,

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Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria

• Authors : Tanja Plessl; Céline Bürer; Caroline Frei ...

Subjects: 2716 Genetics (clinical); 610 Medicine & health; Cobalamin

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Mx genes: host determinants controlling influenza virus infection and trans-species transmission

• Authors : Otto Haller; Georg Kochs;

Subjects: Myxovirus Resistance Proteins; 2716 Genetics (clinical); Transgene

• Source: Human Genetics. 139:695-705

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Analysis of the Qatari R336C cystathionine β‐synthase protein in mice

• Authors : Gheyath K. Nasrallah; Tawfeg Ben-Omran; Sapna Gupta ...

Subjects: Male; Homocysteine; DNA Mutational Analysis

• Source: Gupta, S, Gallego-Villar, L, Wang, L, Lee, H-O, Nasrallah, G, Al-Dewik, N, Häberle, J, Thöny, B, Blom, H J, Ben-Omran, T & Kruger, W D 2019, ' Analysis of the Qatari R336C cystathionine β-synthase

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Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study

• Authors : Chris Mühlhausen; Katharina Mengler; Eva Thimm ...

Subjects: Male; Pediatrics; Glutaric aciduria type 1

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Prediction of combination therapies based on topological modeling of the immune signaling network in multiple sclerosis

• Authors : Tomas Olsson; Janina Behrens; Pablo Villoslada ...

Subjects: 0301 basic medicine; Male; Proteomics

• Source: Dipòsit Digital de Documents de la UABUniversitat Autònoma de BarcelonaGenome Medicine, Vol 13, Iss 1, Pp 1-16 (2021)Genome MedicineDigital.CSIC. Repositorio Institucional

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An international classification of inherited metabolic disorders (ICIMD)

• Authors : Ferreira C. R.; Rahman S.; Keller M. ...

Subjects: Nosology; medicine.medical_specialty; 2716 Genetics (clinical)

• Source: J Inherit Metab Dis

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The role of macrophage scavenger receptor 1 (Msr1) in prion pathogenesis

• Authors : Caihong Zhu; Bei Li; Meiling Chen ...

Subjects: 2716 Genetics (clinical); PrPSc Proteins; animal diseases

• Source: Journal of Molecular MedicineJournal of Molecular Medicine (Berlin, Germany)

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Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing

• Authors : Jean-Louis Guéant; David Coelho; François Feillet ...

Subjects: Proteomics; [MATH.MATH-PR] Mathematics [math]/Probability [math.PR]; MESH: Vitamin B 12 Deficiency

• Source: Human Molecular GeneticsHuman Molecular Genetics, Oxford University Press (OUP), 2020, 29 (12), pp.1969-1985.

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Anchor away – A fast, reliable and reversible technique to inhibit proteins in Drosophila melanogaster

• Authors : Julia Pepperl; Konrad Basler; Pablo Sanchez Bosch ...

Subjects: 2716 Genetics (clinical); Mutant; QH426-470

• Source: G3: Genes, Genomes, Genetics, Vol 10, Iss 5, Pp 1745-1752 (2020)

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