Bleeding phenotype and hemostatic evaluation by thrombin generation in children with Noonan syndrome: A prospective study
Barg, Assaf A., Yeshayahu, Yonatan, Avishai, Einat, Budnik, Ivan, Cohen, Omri, Brutman‐Barazani, Tami, Dardik, Rima, Raas‐Rothschild, Annick, Levy‐Mendelovich, Sarina, Livnat, Tami, Pinhas‐Hamiel, Orit, Kenet, Gili
Published in Pediatric blood & cancer (01.02.2024)
Published in Pediatric blood & cancer (01.02.2024)
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Journal Article
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects
Baker, Elizabeth K., Solivio, Beulah, Pode‐Shakked, Ben, Cross, Laura Ann, Sullivan, Bonnie, Raas‐Rothschild, Annick, Chorin, Odelia, Barel, Ortal, Bar‐Yosef, Omer, Husami, Ammar, Hopkin, Robert J., Prada, Carlos E., Stottmann, Rolf W., Weaver, Kathryn Nicole
Published in American journal of medical genetics. Part A (01.11.2022)
Published in American journal of medical genetics. Part A (01.11.2022)
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Journal Article
Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome)
Assia Batzir, Nurit, Posey, Jennifer E., Song, Xiaofei, Akdemir, Zeynep Coban, Rosenfeld, Jill A., Brown, Chester W., Chen, Emily, Holtrop, Shannon G., Mizerik, Elizabeth, Nieto Moreno, Margarita, Payne, Katelyn, Raas‐Rothschild, Annick, Scott, Richard, Vernon, Hilary J., Zadeh, Neda, Lupski, James R., Sutton, V. Reid
Published in American journal of medical genetics. Part A (01.01.2020)
Published in American journal of medical genetics. Part A (01.01.2020)
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Journal Article
A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds
Marek‐Yagel, Dina, Bolkier, Yoav, Barel, Ortal, Vardi, Amir, Mishali, David, Katz, Uriel, Salem, Yishay, Abudi, Shachar, Nayshool, Omri, Kol, Nitzan, Raas‐Rothschild, Annick, Rechavi, Gideon, Anikster, Yair, Pode‐Shakked, Ben
Published in American journal of medical genetics. Part A (01.05.2020)
Published in American journal of medical genetics. Part A (01.05.2020)
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Journal Article
Nablus syndrome: Easy to diagnose yet difficult to solve
Allanson, Judith, Smith, Amanda, Forzano, Francesca, Lin, Angela E., Raas‐Rothschild, Annick, Howley, Heather E., Boycott, Kym M.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2018)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2018)
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Journal Article
BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family
Pode‐Shakked, Naomi, Barel, Ortal, Pode‐Shakked, Ben, Eliyahu, Aviva, Singer, Amihood, Nayshool, Omri, Kol, Nitzan, Raas‐Rothschild, Annick, Pras, Elon, Shohat, Mordechai
Published in Molecular genetics & genomic medicine (01.06.2019)
Published in Molecular genetics & genomic medicine (01.06.2019)
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Journal Article
The clinical spectrum of fetal Niemann–Pick type C
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
Published in American journal of medical genetics. Part A (01.03.2009)
Published in American journal of medical genetics. Part A (01.03.2009)
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Journal Article
Deficiency of the sphingosine‐1‐phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications
Janecke, Andreas R., Xu, Ruijuan, Steichen‐Gersdorf, Elisabeth, Waldegger, Siegfried, Entenmann, Andreas, Giner, Thomas, Krainer, Iris, Huber, Lukas A, Hess, Michael W, Frishberg, Yaacov, Barash, Hila, Tzur, Shay, Schreyer‐Shafir, Nira, Sukenik–Halevy, Rivka, Zehavi, Tania, Raas‐Rothschild, Annick, Mao, Cungui, Müller, Thomas
Published in Human mutation (01.04.2017)
Published in Human mutation (01.04.2017)
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Journal Article
Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome
Merdler-Rabinowicz, Rona, Pode-Shakked, Ben, Vivante, Asaf, Lahav, Einat, Kagan, Maayan, Chorin, Odelia, Somech, Raz, Raas-Rothschild, Annick
Published in Pediatric nephrology (Berlin, West) (01.12.2021)
Published in Pediatric nephrology (Berlin, West) (01.12.2021)
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Journal Article
Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature
JAMRA, Rami Abou, PHILIPPE, Orianne, MUNNICH, Arnold, STROM, Tim M, REIS, Andre, COLLEAUX, Laurence, RAAS-ROTHSCHILD, Annick, ECK, Sebastian H, GRAF, Elisabeth, BUCHERT, Rebecca, BORCK, Guntram, EKICI, Arif, BROCKSCHMIDT, Felix F, NÖTHEN, Markus M
Published in American journal of human genetics (10.06.2011)
Published in American journal of human genetics (10.06.2011)
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Journal Article
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization
Kämpe, Anders J, Costantini, Alice, Levy‐shraga, Yael, Zeitlin, Leonid, Roschger, Paul, Taylan, Fulya, Lindstrand, Anna, Paschalis, Eleftherios P, Gamsjaeger, Sonja, Raas‐Rothschild, Annick, Hövel, Matthias, Jiao, Hong, Klaushofer, Klaus, Grasemann, Corinna, Mäkitie, Outi
Published in Journal of bone and mineral research (01.12.2017)
Published in Journal of bone and mineral research (01.12.2017)
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Journal Article
LMOD3‐Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings
Berkenstadt, Michal, Pode‐Shakked, Ben, Barel, Ortal, Barash, Hila, Achiron, Reuven, Gilboa, Yinon, Kidron, Dvora, Raas‐Rothschild, Annick
Published in Journal of ultrasound in medicine (01.07.2018)
Published in Journal of ultrasound in medicine (01.07.2018)
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Journal Article
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel
Kristal, Eyal, Pode-Shakked, Ben, Hazan, Guy, Banne, Ehud, Ling, Galina, David, Odeya, Shany, Eilon, Raas-Rothschild, Annick, Anikster, Yair, Kneller, Katya, Hershkovitz, Eli, Landau, Yuval E, Spiegel, Ronen, Zehavi, Yoav, Staretz-Chacham, Orna
Published in Orphanet journal of rare diseases (08.09.2021)
Published in Orphanet journal of rare diseases (08.09.2021)
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Journal Article
Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C
Reinstein, Eyal, Gutierrez-Fernandez, Ana, Tzur, Shay, Bormans, Concetta, Marcu, Shai, Tayeb-Fligelman, Einav, Vinkler, Chana, Raas-Rothschild, Annick, Irge, Dana, Landau, Meytal, Shohat, Mordechai, Puente, Xose S, Behar, Doron M, Lopez-Otın, Carlos
Published in European journal of human genetics : EJHG (01.12.2016)
Published in European journal of human genetics : EJHG (01.12.2016)
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Journal Article
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families
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
Published in Frontiers in genetics (25.06.2019)
Published in Frontiers in genetics (25.06.2019)
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Journal Article
New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes
Abekhoukh, Sabiha, Sahin, H Bahar, Grossi, Mauro, Zongaro, Samantha, Maurin, Thomas, Madrigal, Irene, Kazue-Sugioka, Daniele, Raas-Rothschild, Annick, Doulazmi, Mohamed, Carrera, Pilar, Stachon, Andrea, Scherer, Steven, Drula Do Nascimento, Maria Rita, Trembleau, Alain, Arroyo, Ignacio, Szatmari, Peter, Smith, Isabel M, Milà, Montserrat, Smith, Adam C, Giangrande, Angela, Caillé, Isabelle, Bardoni, Barbara
Published in Disease models & mechanisms (01.04.2017)
Published in Disease models & mechanisms (01.04.2017)
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Journal Article
Vici syndrome in Israel: Clinical and molecular insights
Chorin, Odelia, Hirsch, Yoel, Rock, Rachel, Salzer Sheelo, Liat, Goldberg, Yael, Mandel, Hanna, Hershkovitz, Tova, Fleischer, Nicole, Greenbaum, Lior, Katz, Uriel, Barel, Ortal, Hamed, Nasrin, Ben-Zeev, Bruria, Greenberger, Shoshana, Nasser Samra, Nadra, Stern Zimmer, Michal, Raas-Rothschild, Annick, Pode-Shakked, Ben
Published in Frontiers in genetics (20.09.2022)
Published in Frontiers in genetics (20.09.2022)
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Journal Article