Annegret Kujat

Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome

Albrecht Röpke, Annegret Kujat, Mechthild Gräber et al. · Human Mutation · 2002 · 63 citations · Full text

Parental mosaicism of JAG1 mutations in families with Alagille syndrome

Joannis Giannakudis, Albrecht Röpke, Annegret Kujat et al. · European Journal of Human Genetics · 2001 · 59 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +9

A missense mutation in the <i>ZFHX1B</i> gene associated with an atypical Mowat–Wilson syndrome phenotype

Wolfram Heinritz, Christiane Zweier, Ursula G. Froster et al. · American Journal of Medical Genetics Part A · 2006 · 37 citations

Prenatal Diagnosis and Genetic Counseling in a Case of Spina Bifida in a Family with Waardenburg Syndrome Type I

Annegret Kujat, Veit-Peter Veith, R Faber et al. · Fetal Diagnosis and Therapy · 2006 · 19 citations

Bladder exstrophy and Epstein type congenital macrothrombocytopenia: Evidence for a common cause?

Boris Utsch, Analisa DiFeo, Annegret Kujat et al. · American Journal of Medical Genetics Part A · 2006 · 11 citations

Urological Research, Urology, Medicine +5