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American Journal of Medical Genetics. Part A|March 6, 2020
The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasiaMaha Abdulhadi-Atwan, Tehila Klopstock, Muna Sharaf, et al.
European Journal of Endocrinology|May 24, 2012
A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitaliaOded Breuer, Maha Abdulhadi-Atwan, Sharon Zeligson, et al.
Reproductive Biomedicine Online|August 14, 2012
PGD for germline mosaicismGheona Altarescu, Rachel Beeri, Talia Eldar-Geva, et al.
Digestive Diseases and Sciences|January 7, 2014
Thiopurine S-methyltransferase (TPMT) activity is better determined by biochemical assay versus genotyping in the Jewish populationYair Kasirer, Rephael Mevorach, Paul Renbaum, et al.
American Journal of Human Genetics|August 4, 2009
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 genePaul Renbaum, Efrat Kellerman, Ranit Jaron, et al.
Pediatric Research|April 12, 2007
(TA)n UGT 1A1 promoter polymorphism: a crucial factor in the pathophysiology of jaundice in G-6-PD deficient neonatesMichael Kaplan, Paul Renbaum, Hendrik J Vreman, et al.
Psychoneuroendocrinology|November 3, 2007
A dual role for interleukin-1 in hippocampal-dependent memory processesInbal Goshen, Tirzah Kreisel, Hadile Ounallah-Saad, et al.
FEBS Letters|May 26, 2020
Cold-sensitive phenotypes of a yeast null mutant of ARV1 support its role as a GPI flippaseHaruka Okai, Ryoko Ikema, Hiroki Nakamura, et al.
Human Reproduction (Oxford, England)|August 18, 2010
PGD for fragile X syndrome: ovarian function is the main determinant of successAvi Tsafrir, Gheona Altarescu, Ehud Margalioth, et al.
Human Reproduction (Oxford, England)|August 19, 2009
Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutationsGheona Altarescu, Talia Eldar-Geva, Irit Varshower, et al.
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