Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families von Greenbaum, Lior, Pode-Shakked, Ben, Eisenberg-Barzilai, Shlomit, Dicastro-Keidar, Michal, Bar-Ziv, Anat, Goldstein, Nurit, Reznik-Wolf, Haike, Poran, Hana, Rigbi, Amihai, Barel, Ortal, Bertoli-Avella, Aida M, Bauer, Peter, Regev, Miriam, Raas-Rothschild, Annick, Pras, Elon, Berkenstadt, Michal

Volltext

Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations von Landau, Zohar, Hanukoglu, Aaron, Sack, Joseph, Goldstein, Nurit, Weintrob, Naomi, Eliakim, Alon, Gillis, David, Sagi, Michal, Shomrat, Ruth, Kosinovsky, Elka Bella, Anikster, Yair

Volltext

Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase ( ) gene von Bercovich, Dani, Elimelech, Arava, Zlotogora, Joel, Korem, Sigal, Yardeni, Tal, Gal, Nurit, Goldstein, Nurit, Vilensky, Bela, Segev, Roni, Avraham, Smadar, Loewenthal, Ron, Schwartz, Gerard, Anikster, Yair

Volltext

The GALT rush: High carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population von Goldstein, Nurit, Cohen, Yoram, Pode-Shakked, Ben, Sigalov, Ekaterina, Vilensky, Bela, Peleg, Leah, Anikster, Yair

Volltext

Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia von Bar-joseph, Ifat, Pras, Elon, Reznik-Wolf, Haike, Marek-Yagel, Dina, Abu-Horvitz, Almogit, Dushnitzky, Maya, Goldstein, Nurit, Rienstein, Shlomit, Dekel, Michal, Pode-Shakked, Ben, Zlotnik, Joseph, Benarrosh, Anelia, Gillery, Philippe, Hofliger, Niklaus, Auray-Blais, Christiane, Garnotel, Roselyne, Anikster, Yair

Volltext

Schimke Immuno-Osseous Dysplasia: Expression of SMARCAL1 in Blood and Kidney Provides Novel Insight Into Disease Phenotype von Dekel, Benjamin, Metsuyanim, Sally, Goldstein, Nurit, Pode-Shakked, Naomi, Kovalski, Yael, Cohen, Yoram, Davidovits, Miriam, Anikster, Yair

Volltext

Lack of association between the C2 allele of transferrin and age-related macular degeneration in the Israeli population von Asleh, Saleh Abu, Lederman, Michal, Weinstein, Orly, Horowitz, Smadar, Meir, Tal, Lahad, Amnon, Goldstein, Nurit, Sharon, Dror, Israel, Shoshana, Chowers, Itay

Volltext

Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort von Brabbing-Goldstein, Dana, Bazak, Lily, Ruhrman-Shahar, Noa, Lidzbarsky, Gabriel Arie, Orenstein, Naama, Lifshiz-Kalis, Marina, Asia-Batzir, Nurit, Goldberg, Yael, Basel-Salmon, Lina

Volltext

The natural history study of preclinical genetic Creutzfeldt-Jakob Disease (CJD): a prospective longitudinal study protocol von Bregman, Noa, Shiner, Tamara, Kavé, Gitit, Alcalay, Roy, Gana-Weisz, Mali, Goldstein, Orly, Glinka, Tal, Aizenstein, Orna, Bashat, Dafna Ben, Alcalay, Yifat, Mirelman, Anat, Thaler, Avner, Giladi, Nir, Omer, Nurit

Volltext

Syngeneic leukemia models using lentiviral transgenics von Keinan, Nurit, Scharff, Ye’ela, Goldstein, Oron, Chamo, Michael, Ilic, Stefan, Gazit, Roi

Volltext

The translation of self-spirituality into organizations von ZAIDMAN, Nurit, GOLDSTEIN-GIDONI, Ofra

Volltext

Fruit load governs transpiration of olive trees von Bustan, Amnon, Dag, Arnon, Yermiyahu, Uri, Erel, Ran, Presnov, Eugene, Agam, Nurit, Kool, Dilia, Iwema, Joost, Zipori, Isaac, Ben-Gal, Alon

Volltext

Pegcetacoplan for the treatment of geographic atrophy secondary to age-related macular degeneration (OAKS and DERBY): two multicentre, randomised, double-masked, sham-controlled, p... von Heier, Jeffrey S, Lad, Eleonora M, Holz, Frank G, Rosenfeld, Philip J, Guymer, Robyn H, Boyer, David, Grossi, Federico, Baumal, Caroline R, Korobelnik, Jean-Francois, Slakter, Jason S, Waheed, Nadia K, Metlapally, Ravi, Pearce, Ian, Steinle, Nathan, Francone, Anibal A, Hu, Allen, Lally, David R, Deschatelets, Pascal, Francois, Cedric, Bliss, Caleb, Staurenghi, Giovanni, Monés, Jordi, Singh, Rishi P, Ribeiro, Ramiro, Wykoff, Charles C, Cole, Abosede O, Gerstenblith, Adam T, Kotagiri, Ajay, Edwards, Albert O, Zambrano, Alberto D, Eaton, Alexander M, Rubowitz, Alexander, Lyon, Alice T, Chiang, Allen, Ho, Allen, Hu, Allen Y, Guerami, Amir H, Dessouki, Amr L, de Carvalho, André Corrêa Maia, Emanuelli, Andrés, Chang, Andrew A, Antoszyk, Andrew N, Francone, Anibal Andrés, Prasad, Anita, Wolf, Armin, Khanani, Arshad M, Abbey, Ashkan Michael, Moulana, Asma, Wihelm, Barbara, Sikorski, Bartosz L, Kuppermann, Baruch D, Wolff, Benjamin, Jewart, Brian H, Do, Brian K, Chan-Kai, Brian T, Mein, Calvin, Hoyng, Carel B, Awh, Carl C, Regillio, Carl, Zeolite, Carlos, Creuzot-Garcher, Catherine, Maury, Catherine Français, Newell, Charles K, Jhaveri, Chirag, Lohmann, Chris P, Dinah, Christiana B, Ma, Colin, Crawford, Courtney, Parke, D Wilkin, Lavinsky, Daniel, Roth, Daniel, Pieramici, Dante J, Moshfeghi, Darius M, Levin, Darrin, Saperstein, David A, Brown, David, Gaucher, David, Liao, David S, Brown, David Warren, Goldstein, Debra, Marcus, Dennis, Chan, Derek G, Dhoot, Dilsher, Tacite, Domingo, Zalewski, Dominik, Espana, Edgar M, Souied, Eric H, Suan, Eric P, Eting, Eva, Sola, Federico Furno, de Bats, Flore, Bandello, Francesco, Gómez-Ulla, Francisco, Devin, François, Chen, Fred K, Makkouk, Fuad, Dyer, Gawain, Spital, George, Stoller, Glenn, Cousins, Gwen

Volltext

Three Cdk1 sites in the kinesin-5 Cin8 catalytic domain coordinate motor localization and activity during anaphase von Goldstein, Alina, Siegler, Nurit, Goldman, Darya, Judah, Haim, Valk, Ervin, Kõivomägi, Mardo, Loog, Mart, Gheber, Larisa

Volltext

Correction: The natural history study of preclinical genetic Creutzfeldt-Jakob Disease (CJD): a prospective longitudinal study protocol von Bregman, Noa, Shiner, Tamara, Kavé, Gitit, Alcalay, Roy, Gana-Weisz, Mali, Goldstein, Orly, Glinka, Tal, Aizenstein, Orna, Ben Bashat, Dafna, Alcalay, Yifat, Mirelman, Anat, Thaler, Avner, Giladi, Nir, Omer, Nurit

Volltext

Metabolic syndrome does not influence the phenotype of LRRK2 and GBA related Parkinson’s disease von Thaler, Avner, Shenhar-Tsarfaty, Shani, Shaked, Yanay, Gurevich, Tanya, Omer, Nurit, Bar-Shira, Anat, Gana-Weisz, Mali, Goldstein, Orly, Kestenbaum, Meir, Cedarbaum, Jesse M., Orr-Urtreger, Avi, Giladi, Nir, Mirelman, Anat

Volltext

Spirituality as a Discarded Form of Organizational Wisdom: Field-Based Analysis von Zaidman, Nurit, Goldstein-Gidoni, Ofra

Volltext

Biochemical markers for severity and risk in GBA and LRRK2 Parkinson’s disease von Thaler, Avner, Omer, Nurit, Giladi, Nir, Gurevich, Tanya, Bar-Shira, Anat, Gana-Weisz, Mali, Goldstein, Orly, Kestenbaum, Meir, Cedarbaum, Jesse M., Orr-Urtreger, Avi, Shenhar-Tsarfaty, Shani, Mirelman, Anat

Volltext

Invasive Fungal Infections in Children with Acute Leukemia: Epidemiology, Risk Factors, and Outcome von Gal Etzioni, Tamar Ruth, Fainshtain, Nurit, Nitzan-Luques, Adi, Goldstein, Gal, Weinreb, Sigal, Temper, Violeta, Korem, Maya, Averbuch, Dina

Volltext

DTI Abnormalities in Healthy E200K Carriers May Serve as an Early Biomarker for Genetic Creuzfeldt-Jakob Disease (gCJD) (P1-1.Virtual) von Omer, Nurit, Silbak, Rawan, Trabulus, Noa, Shiner, Tamara, Moore, Orna, Gana-Weiss, Mali, Goldstein, Orly, Glinka, Tal, Orr-Urterger, Avi, Giladi, Nir, Droby, Amgad, Bergman, Noa

Volltext