| XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription D Zangen, Y Kaufman, S Zeligson, S Perlberg, H Fridman, M Kanaan, ... The American Journal of Human Genetics 89 (4), 572-579, 2011 | 124 | 2011 |
| Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence M Abdulhadi-Atwan, JD Bushman, S Tornovsky-Babaey, A Perry, ... Diabetes 57 (7), 1935-1940, 2008 | 67 | 2008 |
| Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy A Abu Libdeh, F Levy-Khademi, M Abdulhadi-Atwan, E Bosin, M Korner, ... European journal of endocrinology 162 (2), 221-226, 2010 | 51 | 2010 |
| GLP-1-RA corrects mitochondrial labile iron accumulation and improves β-cell function in type 2 Wolfram syndrome L Danielpur, YS Sohn, O Karmi, C Fogel, A Zinger, A Abu-Libdeh, T Israeli, ... The Journal of Clinical Endocrinology & Metabolism 101 (10), 3592-3599, 2016 | 47 | 2016 |
| Testicular differentiation factor SF-1 is required for human spleen development LLE Zangen D, Kaufman Y, Banne E, Weinberg-Shukron A, Abulibdeh A, Garfinkel ... J Clin Invest. 124 (5), 2071-5, 2014 | 42 | 2014 |
| Combined gestational age-and birth weight–adjusted cutoffs for newborn screening of congenital adrenal hyperplasia N Pode-Shakked, A Blau, B Pode-Shakked, D Tiosano, N Weintrob, ... The Journal of Clinical Endocrinology & Metabolism 104 (8), 3172-3180, 2019 | 35 | 2019 |
| Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and … A Weinberg-Shukron, A Abu-Libdeh, F Zhadeh, L Carmel, A Kogot-Levin, ... Journal of medical genetics 52 (9), 636-641, 2015 | 35 | 2015 |
| Propionic acidemia mimicking diabetic ketoacidosis IM Dweikat, EN Naser, AIA Libdeh, OJ Naser, NNA Gharbieh, NF Maraqa, ... Brain and Development 33 (5), 428-431, 2011 | 31 | 2011 |
| RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1 B Abu-Libdeh, SS Jhujh, S Dhar, JA Sommers, A Datta, GMC Longo, ... The Journal of clinical investigation 132 (5), 2022 | 30 | 2022 |
| Optimizing health care for individuals with Down syndrome in Israel ID Wexler, A Abu-Libdeh, Y Kastiel, A Nimrodi, E Kerem, A Tenenbaum The Israel Medical Association Journal 11 (11), 655, 2009 | 29 | 2009 |
| NKX2-mutation causes congenital diabetes and infantile obesity with paradoxical glucose induced ghrelin secretion ZD Auerbach A, Cohen A, Shlomai NO, Weinberg-Shukron A, Gulsuner S, King MC ... J Clin Endocrinol Metab 105 (11), 1-10, 2020 | 22* | 2020 |
| Familial autosomal recessive renal tubular acidosis: importance of early diagnosis A Vivante, D Lotan, N Pode-Shakked, D Landau, P Svec, S Nampoothiri, ... Nephron Physiology 119 (3), p31-p39, 2011 | 16 | 2011 |
| RETRACTED: Generalized verrucosis and abnormal T cell activation due to homozygous TAOK2 mutation V Molho-Pessach, Y Ramot, M Mogilevsky, L Cohen-Daniel, ... Journal of Dermatological Science 87 (2), 123-129, 2017 | 12 | 2017 |
| Euthyroid submedian free T4 and subclinical hypothyroidism may have a detrimental clinical effect in Down syndrome ZDH Tenenbaum A, Lebel E, Malkiel S, Kastiel Y, Abulibdeh A Horm Res Paediatr 78 (2), 113-18, 2012 | 11 | 2012 |
| Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity Y Faingelernt, E Hershkovitz, B Abu‐Libdeh, A Abedrabbo, ... American Journal of Medical Genetics Part A 185 (4), 1033-1038, 2021 | 9 | 2021 |
| Iatrogenic cushing syndrome due to intranasal dexamethasone A Rottenstreich, ID Wexler, A Abu-Libdeh, Y Berkun Clinical Pediatrics 54 (12), 1215-1217, 2015 | 7 | 2015 |
| Global emergencies in child health: challenges and solutions—viewpoint and recommendations from the European Paediatric Association and the International Pediatric Association N Thacker, E Hasanoglu, J Dipesalema, L Namazova-Baranova, ... The Journal of Pediatrics 241, 266, 2022 | 6 | 2022 |
| Access to fludrocortisone and to hydrocortisone in children with congenital adrenal hyperplasia in the WHO Eastern Mediterranean Region: it takes a village… A Rowlands, A Deeb, A Ladjouze, RT Hamza, SA Musa, J Raza, ... BMJ Global Health 6 (10), e007195, 2021 | 6 | 2021 |
| A unique Presentation of XY Gonadal Dysgenesis in Fraiser Syndrome due to WT1 mutation and a literature Review ZD Lavi E, Zighan M, Abu Libdeh A, Klopstock T, Weinberg-Shukron A, Renbaum ... Pediatr Endocrinol Rev 17 (4), 302-307, 2020 | 5* | 2020 |
| Growth hormone therapy for children with Duchenne muscular dystrophy and glucocorticoid induced short stature E Lavi, A Cohen, T Dor, R Tsabari, D Zangen Journal of the Endocrine Society 5 (Suppl 1), A715, 2021 | 4 | 2021 |