Helmuth‐Günther Dörr

Mutations in the Pericentrin ( <i>PCNT</i> ) Gene Cause Primordial Dwarfism

Anita Rauch, Christian T. Thiel, Detlev Schindler et al. · Science · 2008 · 392 citations

Biology, Pcnt Results, Developmental Biology +10

Circadian Rhythm of Salivary Cortisol, 17α-Hydroxyprogesterone, and Progesterone in Healthy Children

Michael Gröschl, Manfred Rauh, Helmuth‐Günther Dörr · Clinical Chemistry · 2003 · 144 citations · Full text

Few Reference Intervals, Neuroendocrinology, Gynecology +18

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

Nadine Hauer, Bernt Popp, Schoeller Eva et al. · Genetics in Medicine · 2017 · 139 citations · Full text

Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort

Mohamad Maghnie, Michael B. Ranke, Mitchell E. Geffner et al. · The Journal of Clinical Endocrinology & Metabolism · 2022 · 100 citations · Full text

Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients

Stefan Riedl, Friedrich‐Wilhelm Röhl, Walter Bonfig et al. · Endocrine Connections · 2019 · 72 citations · Full text

Adrenal Gland, Genetic Disorder, Medicine +15