Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants von Johnston, Jennifer J, van der Smagt, Jasper J, Rosenfeld, Jill A, Pagnamenta, Alistair T, Alswaid, Abdulrahman, Baker, Eva H, Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, Vu Chi, Emrick, Lisa, Everman, David B, van Gassen, Koen L, Gulsuner, Suleyman, Harr, Margaret H, Jain, Mahim, Kuechler, Alma, Leppig, Kathleen A, McDonald-McGinn, Donna M, Can, Ngoc Thi Bich, Peleg, Amir, Roeder, Elizabeth R, Rogers, R Curtis, Sagi-Dain, Lena, Sapp, Julie C, Schäffer, Alejandro A, Schanze, Denny, Stewart, Helen, Taylor, Jenny C, Verbeek, Nienke E, Walkiewicz, Magdalena A, Zackai, Elaine H, Zweier, Christiane, Zenker, Martin, Lee, Brendan, Biesecker, Leslie G

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Diagnostic yield and recognized barriers of an adult neurogenetics clinic von Peleg, Amir, Sagi-Dain, Lena, Golan, Daniel

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The rare 13q33–q34 microdeletions: eight new patients and review of the literature von Sagi-Dain, Lena, Goldberg, Yael, Peleg, Amir, Sukenik-Halevy, Rivka, Sofrin-Drucker, Efrat, Appelman, Zvi, Josefsberg, Ben Yehoshua Sagi, Ben-Shachar, Shay, Vinkler, Chana, Basel-Salmon, Lina, Maya, Idit

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The effect of polyhydramnios degree on chromosomal microarray results: a retrospective cohort analysis of 742 singleton pregnancies von Sagi-Dain, Lena, Singer, Amihood, Falik-Zaccai, Tzipora, Peleg, Amir, Bar-Shira, Anat, Feingold-Zadok, Michal, Ben Shachar, Shay, Maya, Idit

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Whole‐exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot‐Marie‐Tooth neuropathy type 2U von Sagi‐Dain, Lena, Shemer, Lilach, Zelnik, Nathanel, Zoabi, Yusri, Orit, Sadeh, Adir, Vardit, Schif, Aharon, Peleg, Amir

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Power Spectral Analysis of Heart Rate Variability During the 100-g Oral Glucose Tolerance Test in Pregnant Women von Weissman, Amir, Lowenstein, Lior, Peleg, Amir, Thaler, Israel, Zimmer, Etan Z

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Shifting Toward a Predictive, Data-Driven Operations Strategy von WILLIAMS, PETER, PELEG, AMIR

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First-Trimester Crown-Rump Length and Risk of Chromosomal Aberrations—A Systematic Review and Meta-analysis von Sagi-Dain, Lena, Peleg, Amir, Sagi, Shlomi

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Seeing is believing: Correlating optoelectronic functionality with atomic scale imaging of single semiconductor nanocrystals von Ossia, Yonatan, Levi, Adar, Chefetz, Nadav, Peleg, Amir, Remennik, Sergei, Vakahi, Atzmon, Banin, Uri

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Risk for chromosomal aberrations in apparently isolated intrauterine growth restriction: A systematic review von Sagi‐Dain, Lena, Peleg, Amir, Sagi, Shlomi

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Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy von Motta, Marialetizia, Sagi-Dain, Lena, Krumbach, Oliver H F, Hahn, Andreas, Peleg, Amir, German, Alina, Lissewski, Christina, Coppola, Simona, Pantaleoni, Francesca, Kocherscheid, Luisa, Altmüller, Franziska, Schanze, Denny, Logeswaran, Thushiha, Chahrokh-Zadeh, Soheyla, Munzig, Anna, Nakhaei-Rad, Saeideh, Cavé, Hélène, Ahmadian, Mohammad R, Tartaglia, Marco, Zenker, Martin

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The effect of opting‐in versus opting‐out forming on the rate of reported variants of questionable significance in prenatal microarray von Haddad‐Halloun, Jumana, Wexler, Ava, Echar, Moran, Harari‐Shaham, Amalia, Polager‐Modan, Shirley, Zaatry, Rawan, Maayouf, Rasha, Assadi, Maisa, Krivoruk, Olga, Peleg, Amir, Sagi‐Dain, Lena

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Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1 von Abdalla-Moady, Tameemi, Peleg, Amir, Sadeh, Orit, Badarneh, Khader, Fares, Fuad

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Microarray analysis in pregnancies with isolated unilateral kidney agenesis von Sagi-Dain, Lena, Maya, Idit, Peleg, Amir, Reches, Adi, Banne, Ehud, Baris, Hagit N, Tenne, Tamar, Singer, Amihood, Ben-Shachar, Shay

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The yield and complications of amniocentesis performed after 24 weeks of gestation von Geffen, Keren Tzadikevitch, Ben-Zvi, Ohad, Weitzner, Omer, Peleg, Amir, Biron-Shental, Tal, Sukenik-Halevy, Rivka

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A novel truncating variant in the FGD1 gene associated with Aarskog–Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly von Kessel, Irena, German, Alina, Peleg, Amir, Gonzaga‐Jauregui, Claudia, Paperna, Tamar, Ekhilevitch, Nina, Kurolap, Alina, Baris Feldman, Hagit, Sagi‐Dain, Lena

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A novel heterozygous loss‐of‐function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature von Sagi‐Dain, Lena, Kurolap, Alina, Ilivitzki, Anat, Mory, Adi, Paperna, Tamar, Kedar, Reuven, Gonzaga‐Jauregui, Claudia, Peleg, Amir, Baris Feldman, Hagit

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Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1 von Brownstein, Zippora, Gulsuner, Suleyman, Walsh, Tom, Martins, Fábio T.A., Taiber, Shahar, Isakov, Ofer, Lee, Ming K., Bordeynik‐Cohen, Mor, Birkan, Maria, Chang, Weise, Casadei, Silvia, Danial‐Farran, Nada, Abu‐Rayyan, Amal, Carlson, Ryan, Kamal, Lara, Arnthórsson, Asgeir Ö., Sokolov, Meirav, Gilony, Dror, Lipschitz, Noga, Frydman, Moshe, Davidov, Bella, Macarov, Michal, Sagi, Michal, Vinkler, Chana, Poran, Hana, Sharony, Reuven, Samra, Nadra, Zvi, Na'ama, Baris‐Feldman, Hagit, Singer, Amihood, Handzel, Ophir, Hertzano, Ronna, Ali‐Naffaa, Doaa, Ruhrman‐Shahar, Noa, Madgar, Ory, Sofrin‐Drucker, Efrat, Peleg, Amir, Khayat, Morad, Shohat, Mordechai, Basel‐Salmon, Lina, Pras, Elon, Lev, Dorit, Wolf, Michael, Steingrimsson, Eirikur, Shomron, Noam, Kelley, Matthew W., Kanaan, Moien N., Allon‐Shalev, Stavit, King, Mary‐Claire, Avraham, Karen B.

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National Rapid Genome Sequencing in Neonatal Intensive Care von Marom, Daphna, Mory, Adi, Reytan-Miron, Sivan, Amir, Yam, Kurolap, Alina, Cohen, Julia Grinshpun, Morhi, Yocheved, Smolkin, Tatiana, Cohen, Lior, Zangen, Shmuel, Shalata, Adel, Riskin, Arieh, Peleg, Amir, Lavie-Nevo, Karen, Mandel, Dror, Chervinsky, Elana, Fisch, Clari Felszer, Fleisher Sheffer, Vered, Falik-Zaccai, Tzipora C, Rips, Jonathan, Shlomai, Noa Ofek, Friedman, Smadar Eventov, Shporen, Calanit Hershkovich, Ben-Yehoshua, Sagie Josefsberg, Simmonds, Aryeh, Yaacobi, Racheli Goldfarb, Bauer-Rusek, Sofia, Omari, Hussam, Weiss, Karin, Hochwald, Ori, Koifman, Arie, Globus, Omer, Batzir, Nurit Assia, Yaron, Naveh, Segel, Reeval, Morag, Iris, Reish, Orit, Eliyahu, Aviva, Leibovitch, Leah, Schwartz, Marina Eskin, Abramsky, Ramy, Hochberg, Amit, Oron, Anat, Banne, Ehud, Portnov, Igor, Samra, Nadra Nasser, Singer, Amihood, Baris Feldman, Hagit

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Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants von Johnston, Jennifer J., van der Smagt, Jasper J., Rosenfeld, Jill A., Pagnamenta, Alistair T., Alswaid, Abdulrahman, Baker, Eva H., Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, Vu Chi, Emrick, Lisa, Everman, David B., van Gassen, Koen L., Gulsuner, Suleyman, Harr, Margaret H., Jain, Mahim, Kuechler, Alma, Leppig, Kathleen A., McDonald-McGinn, Donna M., Ngoc, Can Thi Bich, Peleg, Amir, Roeder, Elizabeth R., Rogers, R. Curtis, Sagi-Dain, Lena, Sapp, Julie C., Schäffer, Alejandro A., Schanze, Denny, Stewart, Helen, Taylor, Jenny C., Verbeek, Nienke E., Walkiewicz, Magdalena A., Zackai, Elaine H., Zweier, Christiane, Zenker, Martin, Lee, Brendan, Biesecker, Leslie G.

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