نتائج البحث - "Shohat, Mordechai"

1

Academic Journal

2q13 Distal Microdeletion: Considering Evidence for an Emerging Syndrome Versus Susceptibility Locus: Twenty‐Five New Cases and Review of the Literature

المؤلفون: Elron, Eyal, Shohat, Mordechai, Basel‐Salmon, Lina, Kahana, Sarit, Matar, Reut, Klein, Kochav, Agmon‐Fishman, Ifaat, Gurevitch, Merav, Berger, Rachel, Brabbing‐Goldstein, Dana, Levy, Michal, Maya, Idit

المصدر: American Journal of Medical Genetics Part A ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.63946
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63946

View record in BASE

2

Academic Journal

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses

المؤلفون: Levy, Michal, Lifshitz, Shira, Goldenberg‐Fumanov, Mirela, Bazak, Lily, Goldstein, Rayna Joy, Hamiel, Uri, Berger, Rachel, Lipitz, Shlomo, Maya, Idit, Shohat, Mordechai

المصدر: Prenatal Diagnosis ; ISSN 0197-3851 1097-0223

الاتاحة: http://dx.doi.org/10.1002/pd.6585
https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/pd.6585

View record in BASE

3

Academic Journal

A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum

المؤلفون: Haratz, Karina Krajden, Malinger, Gustavo, Erlik, Uri, Goldstein, Rayna, Shohat, Mordechai, Birnbaum, Roee

المصدر: Prenatal Diagnosis ; volume 44, issue 3, page 357-359 ; ISSN 0197-3851 1097-0223

الاتاحة: http://dx.doi.org/10.1002/pd.6536
https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/pd.6536

View record in BASE

4

Academic Journal

1063 Prenatal Exome in low-risk pregnancies and apparently normal fetuses – the rate of abnormal findings

المؤلفون: Levy, Michal, Lifshitz, Shira, Goldenberg-Fumanov, Mirela, Bazak, Lily, Goldshtein, Rayna Joy, Hamiel, Uri, Ziskind, Yael Wilnai, Berger, Rachel, Lipitz, Shlomo, Shohat, Mordechai

المصدر: American Journal of Obstetrics and Gynecology ; volume 230, issue 1, page S558-S559 ; ISSN 0002-9378

الاتاحة: https://doi.org/10.1016/j.ajog.2023.11.1090
https://api.elsevier.com/content/article/PII:S0002937823018926?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002937823018926?httpAccept=text/plain

View record in BASE

5

Academic Journal

Identification of a Mosaic Variant in the SYNCRIP Gene Causing Foetal Periventricular Nodular Heterotopia, Abnormal Sulcation and Infratentorial Anomaly.

المؤلفون: Birnbaum, Roee, Malinger, Gustavo, Ben Sira, Liat, Goldenberg‐Furmanov, Mirela, Miremberg, Hadas, Shohat, Mordechai, Haratz, Karina Krajden

المصدر: Prenatal Diagnosis; Dec2024, Vol. 44 Issue 13, p1659-1662, 4p

6

Academic Journal

Whole exome germline sequencing in early‐onset prostate cancer patients: Genomic findings and clinical outcomes

المؤلفون: Siegelmann‐Danieli, Nava, Neiman, Victoria, Bareket‐Samish, Avital, Berger, Racheli, Peretz, Asaf, Alapi, Hillel, Tsur, Erez, Patalon, Tal, Beller, Daniella, Rimler, Galit, Chodick, Gabriel, Shohat, Mordechai

المصدر: The Prostate ; volume 84, issue 1, page 39-46 ; ISSN 0270-4137 1097-0045

الاتاحة: http://dx.doi.org/10.1002/pros.24622
https://onlinelibrary.wiley.com/doi/pdf/10.1002/pros.24622

View record in BASE

7

Academic Journal

Proximal 1q21 duplication: A syndrome or a susceptibility locus?

المؤلفون: Levy, Michal, Shohat, Mordechai, Kahana, Sarit, Matar, Reut, Klein, Kochav, Fishman, Ifat Agmon, Gurevitch, Merav, Basel‐Salmon, Lina, Maya, Idit

المصدر: American Journal of Medical Genetics Part A ; volume 191, issue 10, page 2551-2557 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.63333
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63333

View record in BASE

8

Academic Journal

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

المؤلفون: Tepe, Burak, Macke, Erica L., Niceta, Marcello, Weisz Hubshman, Monika, Kanca, Oguz, Schultz-Rogers, Laura, Zarate, Yuri A., Schaefer, G. Bradley, Granadillo De Luque, Jorge Luis, Wegner, Daniel J., Cogne, Benjamin, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Wagner, Eric J., Pais, Lynn S., Neil, Jennifer E., Mochida, Ganeshwaran H., Walsh, Christopher A., Magal, Nurit, Drasinover, Valerie, Shohat, Mordechai, Schwab, Tanya, Schmitz, Chris, Clark, Karl, Fine, Anthony, Lanpher, Brendan, Gavrilova, Ralitza, Blanc, Pierre, Burglen, Lydie, Afenjar, Alexandra, Steel, Dora, Kurian, Manju A., Prabhakar, Prab, Gößwein, Sophie, Di Donato, Nataliya, Bertini, Enrico S., Wangler, Michael F., Yamamoto, Shinya, Tartaglia, Marco, Klee, Eric W., Bellen, Hugo J., Acosta, Maria T., Adam, Margaret, Adams, David R., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A.

المصدر: The American Journal of Human Genetics ; volume 110, issue 5, page 774-789 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2023.03.012
https://api.elsevier.com/content/article/PII:S0002929723000964?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929723000964?httpAccept=text/plain

View record in BASE

9

Academic Journal

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene

المؤلفون: Pater, Justin A., Penney, Cindy, O’Rielly, Darren D., Griffin, Anne, Kamal, Lara, Brownstein, Zippora, Vona, Barbara, Vinkler, Chana, Shohat, Mordechai, Barel, Ortal, Young, Terry-Lynn

Relation: EXC 2067: Multiscale Bioimaging; RG Moser (Molecular Anatomy, Physiology and Pathology of Sound Encoding); https://resolver.sub.uni-goettingen.de/purl?gro-2/105609; https://mbexc.uni-goettingen.de/literature/publications/462; 2444

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/105609
https://doi.org/10.1007/s00439-022-02444-x
https://mbexc.uni-goettingen.de/literature/publications/462

View record in BASE

10

Academic Journal

Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay

المؤلفون: Eliyahu, Aviva, Barel, Ortal, Greenbaum, Lior, Zaks Hoffer, Gal, Goldberg, Yael, Raas-Rothschild, Annick, Singer, Amihood, Bar-Joseph, Ifat, Kunik, Vered, Javasky, Elisheva, Staretz-Chacham, Orna, Pode-Shakked, Naomi, Bazak, Lily, Ruhrman-Shahar, Noa, Pras, Elon, Frydman, Moshe, Shohat, Mordechai, Pode-Shakked, Ben

المصدر: Frontiers in Pediatrics ; volume 10 ; ISSN 2296-2360

الاتاحة: http://dx.doi.org/10.3389/fped.2022.844845
https://www.frontiersin.org/articles/10.3389/fped.2022.844845/full

View record in BASE

11

Academic Journal

Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population

المؤلفون: Greenbaum, Lior, Ben‐David, Merav, Nikitin, Vera, Gera, Orna, Barel, Ortal, Hersalis‐Eldar, Adi, Shamash, Jana, Shimshoviz, Noam, Reznik‐Wolf, Haike, Shohat, Mordechai, Dominissini, Dan, Pras, Elon, Dori, Amir

المصدر: Annals of Clinical and Translational Neurology ; volume 8, issue 6, page 1260-1268 ; ISSN 2328-9503 2328-9503

الاتاحة: http://dx.doi.org/10.1002/acn3.51362
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51362
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/acn3.51362

View record in BASE

12

Academic Journal

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies

المصدر: Scientific Reports ; volume 11, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-021-98646-w
https://www.nature.com/articles/s41598-021-98646-w.pdf
https://www.nature.com/articles/s41598-021-98646-w

View record in BASE

13

Academic Journal

Benefit versus risk of chromosomal microarray analysis performed in pregnancies with normal and positive prenatal screening results: A retrospective study

المؤلفون: Moshonov, Rami, Hod, Keren, Azaria, Bella, Abadi-Korek, Ifat, Berger, Rachel, Shohat, Mordechai

المساهمون: Novelli, Giuseppe, The Adler Chair of the Sackler School of Medicine, Tel-Aviv University

المصدر: PLOS ONE ; volume 16, issue 4, page e0250734 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0250734
https://dx.plos.org/10.1371/journal.pone.0250734

View record in BASE

14

Academic Journal

Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?

المؤلفون: Daum, Hagit, Meiner, Vardiella, Michaelson-Cohen, Rachel, Sukenik-Halevy, Rivka, Zalcberg, Michal Levy, Bar-Ziv, Anat, Weiden, A. Tzvi, Scher, Sholem Y., Shohat, Mordechai, Zlotogora, Joël

المصدر: European Journal of Human Genetics ; volume 28, issue 7, page 938-942 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-020-0577-0
http://www.nature.com/articles/s41431-020-0577-0.pdf
http://www.nature.com/articles/s41431-020-0577-0

View record in BASE

15

Academic Journal

Isolated ventricular septal defects demonstrated by fetal echocardiography: prenatal course and postnatal outcome

المؤلفون: Raucher Sternfeld, Alona, Sheffy, Amichai, Tamir, Akiva, Mizrachi, Yossi, Assa, Sagie, Shohat, Mordechai, Berger, Rachel, Lev, Dorit, Gindes, Liat

المصدر: The Journal of Maternal-Fetal & Neonatal Medicine ; volume 35, issue 1, page 129-133 ; ISSN 1476-7058 1476-4954

الاتاحة: http://dx.doi.org/10.1080/14767058.2020.1712710
https://www.tandfonline.com/doi/pdf/10.1080/14767058.2020.1712710

View record in BASE

16

Academic Journal

Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center

المصدر: Genetics in Medicine ; volume 22, issue 10, page 1703-1709 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-020-0868-4
http://www.nature.com/articles/s41436-020-0868-4.pdf
http://www.nature.com/articles/s41436-020-0868-4
https://api.elsevier.com/content/article/PII:S1098360021007553?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021007553?httpAccept=text/plain

View record in BASE

17

Academic Journal

Whole exome germline sequencing in early‐onset prostate cancer patients: Genomic findings and clinical outcomes.

المؤلفون: Siegelmann‐Danieli, Nava, Neiman, Victoria, Bareket‐Samish, Avital, Berger, Racheli, Peretz, Asaf, Alapi, Hillel, Tsur, Erez, Patalon, Tal, Beller, Daniella, Rimler, Galit, Chodick, Gabriel, Shohat, Mordechai

المصدر: Prostate; Jan2024, Vol. 84 Issue 1, p39-46, 8p

18

Academic Journal

Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood

المؤلفون: Shalata, Adel, Lauhasurayotin, Supanun, Leibovitz, Zvi, Li, Hongbing, Hebert, Diane, Dhanraj, Santhosh, Hadid, Yarin, Mahroum, Mohammed, Bajar, Jacob, Egenburg, Sandro, Arad, Ayala, Shohat, Mordechai, Haddad, Sami, Bakry, Hassan, Moshiri, Houtan, Scherer, Stephen W, Tzur, Shay, Dror, Yigal

مصطلحات موضوعية: Novel disease loci

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/56/5/340; http://dx.doi.org/10.1136/jmedgenet-2018-105421

الاتاحة: http://jmg.bmj.com/cgi/content/short/56/5/340
https://doi.org/10.1136/jmedgenet-2018-105421

View record in BASE

19

Academic Journal

c.259A>C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype

المؤلفون: Salomon,Ophira, Barel,Ortal, Eyal,Eran, Shnerb Ganor,Reut, Kleinbaum,Yeroham, Shohat,Mordechai

مصطلحات موضوعية: The Application of Clinical Genetics

وصف الملف: text/html

Relation: https://www.dovepress.com/c259agtc-in-the-fibrinogen-gene-of-alpha-chain-fga-is-a-fibrinogen-wit-peer-reviewed-fulltext-article-TACG

الاتاحة: https://www.dovepress.com/c259agtc-in-the-fibrinogen-gene-of-alpha-chain-fga-is-a-fibrinogen-wit-peer-reviewed-fulltext-article-TACG

View record in BASE

20

Academic Journal

BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

المؤلفون: Pode‐Shakked, Naomi, Barel, Ortal, Pode‐Shakked, Ben, Eliyahu, Aviva, Singer, Amihood, Nayshool, Omri, Kol, Nitzan, Raas‐Rothschild, Annick, Pras, Elon, Shohat, Mordechai

المصدر: Molecular Genetics & Genomic Medicine ; volume 7, issue 6 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.665
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.665
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.665
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.665

View record in BASE

تنقيح النتائج