Carlos Knopf

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

Hannah Mandel, Revital Shemer, Zvi Borochowitz et al. · The American Journal of Human Genetics · 2008 · 277 citations · Full text

Developmental Anomaly, Clinical Disorders, Loss-of-function Mutation +9

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

Dirk J. Lefeber, Arjan P.M. de Brouwer, Éva Morava et al. · PLoS Genetics · 2011 · 153 citations · Full text

RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

Lina Basel‐Vanagaite, Ofer Sarig, Dov Hershkovitz et al. · The American Journal of Human Genetics · 2009 · 97 citations · Full text

Cutis Laxa, Pathology, Dermatology +4

Metabolic evidence for impaired 17α-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity

Dov Tiosano, Carlos Knopf, Ilana Koren et al. · European Journal of Endocrinology · 2008 · 71 citations

Angiotensin II Reduces Macrophage Cholesterol Efflux: A Role for the AT-1 Receptor but Not for the ABC1 Transporter

Marielle Kaplan, Michael Aviram, Carlos Knopf et al. · Biochemical and Biophysical Research Communications · 2002 · 28 citations

Inflammation, Molecular Pharmacology, Molecular Physiology +14