SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation von Zaman, Tariq, Helbig, Katherine L., Clatot, Jérôme, Thompson, Christopher H., Kang, Seok Kyu, Stouffs, Katrien, Jansen, Anna E., Verstraete, Lieve, Jacquinet, Adeline, Parrini, Elena, Guerrini, Renzo, Fujiwara, Yuh, Miyatake, Satoko, Ben‐Zeev, Bruria, Bassan, Haim, Reish, Orit, Marom, Daphna, Hauser, Natalie, Vu, Thuy‐Anh, Ackermann, Sally, Spencer, Careni E., Lippa, Natalie, Srinivasan, Shraddha, Charzewska, Agnieszka, Hoffman‐Zacharska, Dorota, Fitzpatrick, David, Harrison, Victoria, Vasudevan, Pradeep, Joss, Shelagh, Pilz, Daniela T., Fawcett, Katherine A., Helbig, Ingo, Matsumoto, Naomichi, Kearney, Jennifer A., Fry, Andrew E., Goldberg, Ethan M.

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Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations von Boissel, Sarah, Reish, Orit, Proulx, Karine, Kawagoe-Takaki, Hiroko, Sedgwick, Barbara, Yeo, Giles S.H., Meyre, David, Golzio, Christelle, Molinari, Florence, Kadhom, Noman, Etchevers, Heather C., Saudek, Vladimir, Farooqi, I. Sadaf, Froguel, Philippe, Lindahl, Tomas, O'Rahilly, Stephen, Munnich, Arnold, Colleaux, Laurence

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Lacosamide for SCN2A‐related intractable neonatal and infantile seizures von Hadar, Flor‐Hirsch, Eli, Heyman, Ayelet, Livneh, Orit, Reish, Nathan, Watemberg, Ita, Litmanovits, Anat, Ben Sason Lilli, Dorit, Lev, Tally, Lerman Sagie, Haim, Bassan

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Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers von Laitman, Yael, Michaelson‐Cohen, Rachel, Levi, Einat, Chen‐Shtoyerman, Rakefet, Reish, Orit, Josefsberg Ben‐Yehoshua, Sagi, Bernstein‐Molho, Rinat, Keinan‐Boker, Lital, Rosengarten, Ora, Silverman, Barbara G., Perri, Tamar, Korach, Jacob, Mor, Pnina, Ephrat Ben‐Baruch, Noa, Levy Lahad, Ephrat, Friedman, Eitan

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Congenital myopathy is caused by mutation of HACD1 von Muhammad, Emad, Reish, Orit, Ohno, Yusuke, Scheetz, Todd, Deluca, Adam, Searby, Charles, Regev, Miriam, Benyamini, Lilach, Fellig, Yakov, Kihara, Akio, Sheffield, Val C, Parvari, Ruti

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Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease von Saada, Ann, Vogel, Rutger O., Hoefs, Saskia J., van den Brand, Mariël A., Wessels, Hans J., Willems, Peter H., Venselaar, Hanka, Shaag, Avraham, Barghuti, Flora, Reish, Orit, Shohat, Mordechai, Huynen, Martijn A., Smeitink, Jan A.M., van den Heuvel, Lambert P., Nijtmans, Leo G.

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Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors von Laitman, Yael, Michaelson-Cohen, Rachel, Chen-Shtoyerman, Rakefet, Goldberg, Yael, Reish, Orit, Bernstein-Molho, Rinat, Levy-Lahad, Ephrat, Baruch, Noa Ephrat Ben, Kedar, Inbal, Evans, D. Gareth, Haim, Sara, Paluch-Shimon, Shani, Friedman, Eitan

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The clinical spectrum of fetal Niemann–Pick type C von Spiegel, Ronen, Raas‐Rothschild, Annick, Reish, Orit, Regev, Miriam, Meiner, Vardiella, Bargal, Ruth, Sury, Vivi, Meir, Karen, Nadjari, Michel, Hermann, Gratiana, Iancu, Theodor C., Shalev, Stavit A., Zeigler, Marsha

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The cytogenetic constitution of embryos derived from immature (metaphase I) oocytes obtained after ovarian hyperstimulation von Strassburger, Deborah, Ph.D, Goldstein, Alexandra, M.Sc, Friedler, Shevach, M.D, Raziel, Aryeh, M.D, Kasterstein, Esti, M.Sc, Mashevich, Maya, Ph.D, Schachter, Mory, M.D, Ron-El, Raphael, M.D, Reish, Orit, M.D

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A new ATP1A1 variant associated with a novel disease phenotype von Conger, Lauren P., Weigl, Yuval, Spontarelli, Kerri, Abe, Kazuhiro, Reish, Orit, Artigas, Pablo

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eP475: Long-term follow-up on fetuses diagnosed in second trimester with isolated single umbilical artery and normal chromosomal microarray von Zimerman, Ariel, Feingold, Michal, Mashevich, Maya, Reish, Orit

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Vertical transmission of a mutation in exon 1 of the WT1 gene: Lessons for genetic counseling von Regev, Miriam, Kirk, Richard, Mashevich, Maya, Bistritzer, Zvi, Reish, Orit

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The yield of targeted genotyping for the recurring mutations in BRCA1/2 in Israel von Bernstein-Molho, Rinat, Laitman, Yael, Schayek, Hagit, Reish, Orit, Lotan, Shira, Haim, Sara, Zidan, Jamal, Friedman, Eitan

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Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities von Castleman, Victoria H., Romio, Leila, Chodhari, Rahul, Hirst, Robert A., de Castro, Sandra C.P., Parker, Keith A., Ybot-Gonzalez, Patricia, Emes, Richard D., Wilson, Stephen W., Wallis, Colin, Johnson, Colin A., Herrera, Rene J., Rutman, Andrew, Dixon, Mellisa, Shoemark, Amelia, Bush, Andrew, Hogg, Claire, Gardiner, R. Mark, Reish, Orit, Greene, Nicholas D.E., O'Callaghan, Christopher, Purton, Saul, Chung, Eddie M.K., Mitchison, Hannah M.

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Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita von Feingold‐Zadok, Michal, Chitayat, David, Chong, Karen, Injeyan, Marie, Shannon, Patrick, Chapmann, Daphne, Maymon, Ron, Pillar, Nir, Reish, Orit

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A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis von Reish, Orit, Aspit, Liam, Zouella, Arielle, Roth, Yehudah, Polak-Charcon, Sylvie, Baboushkin, Tatiana, Benyamini, Lilach, Scheetz, Todd E., Mussaffi, Huda, Sheffield, Val C., Parvari, Ruti

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Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy von Desir, Julie, Moya, Graciela, Reish, Orit, Van Regemorter, Nicole, Deconinck, Hilde, David, Karen L, Meire, Françoise M, Abramowicz, Marc J

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Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita: Mutated NEB causes severe fetal nemaline myopathy von Feingold-Zadok, Michal, Chitayat, David, Chong, Karen, Injeyan, Marie, Shannon, Patrick, Chapmann, Daphne, Maymon, Ron, Pillar, Nir, Reish, Orit

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Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors von Laitman, Yael, Michaelson-cohen, Rachel, Chen-shtoyerman, Rakefet, Goldberg, Yael, Reish, Orit, Bernstein-molho, Rinat, Levy-lahad, Ephrat, Baruch, Noa Ephrat Ben, Kedar, Inbal, Evans, D. Gareth, Haim, Sara, Paluch-shimon, Shani, Friedman, Eitan

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Reduced recombination in maternal meiosis coupled with non-disjunction at meiosis II leading to recurrent 47,XXX von Reish, Orit, Berryman, Todd, Cunningham, Thomas R, Sher, Carron, Oetting, William S

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