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Journal of Medical Genetics|January 11, 2015
Evidence of digenic inheritance in Alport syndromeMaria Antonietta Mencarelli, Laurence Heidet, Helen Storey, et al.Journal of Medical Genetics|January 30, 2026
Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertensionCarrie L Welch, Meriel McEntagart, Shahin Moledina, et al.Frontiers in Public Health|August 2, 2021
Respect Is Central: A Critical Review of Implementation Frameworks for Continuous Quality Improvement in Aboriginal and Torres Strait Islander Primary Health Care ServicesMichelle Redman-MacLaren, Nalita Nungarrayi Turner Anmatyerre/Jaru, Judy Taylor, et al.Journal of the American Society of Nephrology : JASN|September 30, 2003
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" studyJean Philippe Jais, Bertrand Knebelmann, Iannis Giatras, et al.BMC Health Services Research|May 7, 2021
A qualitative exploration of priorities for quality improvement amongst Aboriginal and Torres Strait Islander primary health care servicesKaren Carlisle, Veronica Matthews Quandamooka, Michelle Redman-MacLaren, et al.Oncotarget|December 23, 2011
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human heightKatrina Tatton-Brown, Sandra Hanks, Elise Ruark, et al.Human Molecular Genetics|January 6, 2017
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disordersJochem M G Evers, Roman A Laskowski, Marta Bertolli, et al.Journal of the American Society of Nephrology : JASN|April 7, 2000
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in malesJean Philippe Jais, Bertrand Knebelmann, Iannis Giatras, et al.Oncotarget|January 8, 2019
Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human heightKatrina Tatton-Brown, Sandra Hanks, Elise Ruark, et al.BMJ Open|September 8, 2019
How and why do participatory women's groups (PWGs) improve the quality of maternal and child health (MCH) care? A systematic review protocolRobyn Preston, Sam Rannard, Catrina Felton-Busch, et al.Pageof 10