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Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions

Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family

2021 . Carrion-Castillo, Amaia | B. Estruch, Sara | Maassen, Ben | Franke, Barbara | Francks, Clyde | Fisher, Simon

Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation

2021 . Moalla, Mariam | Safi, Wajdi | Babiker Mansour, Maab | Hadj Kacem, Mohamed | Mahfood, Mona | Abid, Mohamed | Kammoun, Thouraya | Hachicha, Mongia | Mnif-Feki, Mouna | Hadj Kacem, Faten | Hadj Kacem, Hassen

Sexual Dimorphism in Growth Rate and Gene Expression Throughout Immature Development in Wild Type Chrysomya rufifacies (Diptera: Calliphoridae) Macquart

2021 . Pimsler, Meaghan L. | Hjelmen, Carl E. | Jonika, Michelle M. | Sharma, Anika | Fu, Shuhua | Bala, Madhu | Sze, Sing-Hoi | Tomberlin, Jeffery K. | Tarone, Aaron M.

Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT)

2021 . Kohl, Stefan | Habbig, Sandra | Weber, Lutz T. | Liebau, Max C.

Clinico-genetic findings in 509 frontotemporal dementia patients

Origins of human genetics. A personal perspective

2021 . Passarge, Eberhard

Type I Interferon Induction in Cutaneous DNA Damage Syndromes

2021 . Klein, Benjamin | Günther, Claudia

The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes

2021 . Langer, Sara | Waterstradt, Rica | Hillebrand, Georg | Santer, René | Baltrusch, Simone

The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies

2021 . Achour, Ahlem | Koopmann, Tamara T. | Baas, Frank | Harteveld, Cornelis L.

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