Amir Peleg

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld et al. · Genetics in Medicine · 2018 · 220 citations

Life Sciences, Genetics, Molecular Genetics +7

Power Spectral Analysis of Heart Rate Variability During the 100-g Oral Glucose Tolerance Test in Pregnant Women

Amir Weissman, Lior Löwenstein, Amir Peleg et al. · Diabetes Care · 2006 · 57 citations · Full text

Public Health, Endocrinology, Physiology +17

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

Marialetizia Motta, Lena Sagi‐Dain, Oliver H.F. Krumbach et al. · Human Molecular Genetics · 2019 · 51 citations

Life Sciences, Genetics, Molecular Genetics +16

Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Marieke M van der Knoop, Reza Maroofian, Yuko Fukata et al. · Brain · 2022 · 42 citations · Full text

Medicine, Genetics, Neurology +16

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene <scp> <i>ATOH1</i> </scp>

Zippora Brownstein, Süleyman Gülsüner, Tom Walsh et al. · Clinical Genetics · 2020 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16