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STAR Protocols|May 24, 2021
Protocol for the derivation, culturing, and differentiation of human iPS-cell-derived neuroepithelial stem cells to study neural differentiation in vitroJavier Calvo-Garrido, Dania Winn, Camilla Maffezzini, et al.
International Journal of Molecular Medicine|January 14, 2004
DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targetsKiran Kumar Mantripragada, Isabel Tapia-Páez, Elisabeth Blennow, et al.
The Lancet. Diabetes & Endocrinology|March 14, 2014
One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort studySebastian Gidlöf, Henrik Falhammar, Astrid Thilén, et al.
BMC Bioinformatics|July 3, 2020
Loqusdb: added value of an observations database of local genomic variationMåns Magnusson, Jesper Eisfeldt, Daniel Nilsson, et al.
Molecular and Cellular Biology|June 1, 2005
Normal sexual development and fertility in testatin knockout miceVirpi Töhönen, Jessica Frygelius, Majid Mohammadieh, et al.
Epilepsia|September 23, 2020
Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based studyTommy Stödberg, Torbjörn Tomson, Michela Barbaro, et al.
The Journal of Clinical Endocrinology and Metabolism|June 7, 2002
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivityYvonne Lundberg Giwercman, Agneta Nordenskjöld, E Martin Ritzén, et al.
Clinical Endocrinology|June 24, 2014
In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasiaMichela Barbaro, Fernanda C Soardi, Linus J Östberg, et al.
Molecular & Cellular Proteomics : MCP|February 28, 2021
Stable Isotope Labeling of Amino Acids in Flies (SILAF) Reveals Differential Phosphorylation of Mitochondrial Proteins Upon Loss of OXPHOS SubunitsFlorian A Rosenberger, Ilian Atanassov, David Moore, et al.
Human Mutation|February 22, 2022
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange networkChiara Rasi, Daniel Nilsson, Måns Magnusson, et al.
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