Resultats de la cerca - Straussberg, Rachel

Association of pediatric idiopathic intracranial hypertension with olfactory performance per Muhlbauer Avni, Maya, Yosha-Orpaz, Naama, Konen, Osnat, Goldenberg-Cohen, Nitza, Straussberg, Rachel

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A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2 per Paisdzior, Sarah, Knierim, Ellen, Kleinau, Gunnar, Biebermann, Heike, Krude, Heiko, Straussberg, Rachel, Schuelke, Markus

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Rheumatic fever in a developed country – is it still relevant? A retrospective, 25 years follow-up per Tal, Rotem, Saied, Mohamad Hamad, Zidani, Razi, Levinsky, Yoel, Straussberg, Rachel, Amir, Jacob, Amarilyo, Gil, Harel, Liora

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Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture per Feinstein-Linial, Miora, Buvoli, Massimo, Buvoli, Ada, Sadeh, Menachem, Dabby, Ron, Straussberg, Rachel, Shelef, Ilan, Dayan, Daniel, Leinwand, Leslie Anne, Birk, Ohad S.

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DEGS1 variant causes neurological disorder per Dolgin, Vadim, Straussberg, Rachel, Xu, Ruijuan, Mileva, Izolda, Yogev, Yuval, Khoury, Raed, Konen, Osnat, Barhum, Yael, Zvulunov, Alex, Mao, Cungui, Birk, Ohad S.

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Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation per Attali, Ruben, Aharoni, Sharon, Treves, Susan, Rokach, Ori, Becker Cohen, Michal, Fellig, Yakov, Straussberg, Rachel, Dor, Talya, Daana, Muhannad, Mitrani-Rosenbaum, Stella, Nevo, Yoram

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Thiamine Deficiency in Infants: MR Findings in the Brain per Kornreich, Liora, Bron-Harlev, Efrat, Hoffmann, Chen, Schwarz, Michael, Konen, Osnat, Schoenfeld, Tommy, Straussberg, Rachel, Nahum, Elhanan, Ibrahim, Abu-Kishk, Eshel, Gideon, Horev, Gadi

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A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly per Mochida, Ganeshwaran H., Mahajnah, Muhammad, Hill, Anthony D., Basel-Vanagaite, Lina, Gleason, Danielle, Hill, R. Sean, Bodell, Adria, Crosier, Moira, Straussberg, Rachel, Walsh, Christopher A.

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Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations per Hausman-Kedem, Moran, Ben-Sira, Liat, Kidron, Debora, Ben-Shachar, Shay, Straussberg, Rachel, Marom, Daphna, Ponger, Penina, Bar-Shira, Anat, Malinger, Gustavo, Fattal-Valevski, Aviva

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Clinical improvement of a toddler with COVID-19 focal cerebral arteriopathy possibly due to intra-arterial nimodipine per Avital, Dekel, Peretz, Shlomi, Perlow, Eliauh, Konen, Osnat, Inbar, Edna, Bulkowstein, Yarden, Nahum, Elhanan, Aharoni, Sharon, Vig, Lital Cohen, Nevo, Yoram, Auriel, Eitan, Straussberg, Rachel

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An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21 per Piao, Xianhua, Basel-Vanagaite, Lina, Straussberg, Rachel, Grant, P. Ellen, Pugh, Elizabeth W., Doheny, Kim, Doan, Betty, Hong, Susan E., Shugart, Yin Yao, Walsh, Christopher A.

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Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel per Aharoni, Sharon, Barwick, Katy E. S., Straussberg, Rachel, Harlalka, Gaurav V., Nevo, Yoram, Chioza, Barry A., McEntagart, Meriel M., Mimouni-Bloch, Aviva, Weedon, Michael, Crosby, Andrew H.

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Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex per Kaufmann, Rami, Straussberg, Rachel, Mandel, Hanna, Fattal-Valevski, Aviva, Ben-Zeev, Bruria, Naamati, Adi, Shaag, Avraham, Zenvirt, Shamir, Konen, Osnat, Mimouni-Bloch, Aviva, Dobyns, William B., Edvardson, Simon, Pines, Ophry, Elpeleg, Orly

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Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures per Tan, Tiong Yang, Sedmík, Jiří, Fitzgerald, Mark P., Halevy, Rivka Sukenik, Keegan, Liam P., Helbig, Ingo, Basel-Salmon, Lina, Cohen, Lior, Straussberg, Rachel, Chung, Wendy K., Helal, Mayada, Maroofian, Reza, Houlden, Henry, Juusola, Jane, Sadedin, Simon, Pais, Lynn, Howell, Katherine B., White, Susan M., Christodoulou, John, O’Connell, Mary A.

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Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23 per Lee, John Y.W., Hsu, Chao-Kai, Michael, Magdalene, Nanda, Arti, Liu, Lu, McMillan, James R., Pourreyron, Celine, Takeichi, Takuya, Tolar, Jakub, Reid, Evan, Hayday, Thomas, Blumen, Sergiu C., Abu-Mouch, Saif, Straussberg, Rachel, Basel-Vanagaite, Lina, Barhum, Yael, Zouabi, Yasmin, Al-Ajmi, Hejab, Huang, Hsin-Yu, Lin, Ting-Chien, Akiyama, Masashi, Lee, Julia Y.Y., McLean, W.H. Irwin, Simpson, Michael A., Parsons, Maddy, McGrath, John A.

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Phospholipase A(2)-activating protein is associated with a novel form of leukoencephalopathy per Falik Zaccai, Tzipora C, Savitzki, David, Zivony-Elboum, Yifat, Vilboux, Thierry, Fitts, Eric C, Shoval, Yishay, Kalfon, Limor, Samra, Nadra, Keren, Zohar, Gross, Bella, Chasnyk, Natalia, Straussberg, Rachel, Mullikin, James C, Teer, Jamie K, Geiger, Dan, Kornitzer, Daniel, Bitterman-Deutsch, Ora, Samson, Abraham O, Wakamiya, Maki, Peterson, Johnny W, Kirtley, Michelle L, Pinchuk, Iryna V, Baze, Wallace B, Gahl, William A, Kleta, Robert, Anikster, Yair, Chopra, Ashok K

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A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome per Bassuk, Alexander G., Wallace, Robyn H., Buhr, Aimee, Buller, Andrew R., Afawi, Zaid, Shimojo, Masahito, Miyata, Shingo, Chen, Shan, Gonzalez-Alegre, Pedro, Griesbach, Hilary L., Wu, Shu, Nashelsky, Marcus, Vladar, Eszter K., Antic, Dragana, Ferguson, Polly J., Cirak, Sebahattin, Voit, Thomas, Scott, Matthew P., Axelrod, Jeffrey D., Gurnett, Christina, Daoud, Azhar S., Kivity, Sara, Neufeld, Miriam Y., Mazarib, Aziz, Straussberg, Rachel, Walid, Simri, Korczyn, Amos D., Slusarski, Diane C., Berkovic, Samuel F., El-Shanti, Hatem I.

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A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features per Shao, Diane D., Straussberg, Rachel, Ahmed, Hind, Khan, Amjad, Tian, Songhai, Hill, R. Sean, Smith, Richard S., Majmundar, Amar J., Ameziane, Najim, Neil, Jennifer E., Yang, Edward, Al Tenaiji, Amal, Jamuar, Saumya S., Schlaeger, Thorsten M., Al-Saffar, Muna, Hovel, Iris, Al-Shamsi, Aisha, Basel-Salmon, Lina, Amir, Achiya Z., Rento, Lariza M., Lim, Jiin Ying, Ganesan, Indra, Shril, Shirlee, Evrony, Gilad, Barkovich, A. James, Bauer, Peter, Hildebrandt, Friedhelm, Dong, Min, Borck, Guntram, Beetz, Christian, Al-Gazali, Lihadh, Eyaid, Wafaa, Walsh, Christopher A.

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Multiplex families with epilepsy: Success of clinical and molecular genetic characterization per Afawi, Zaid, Oliver, Karen L., Kivity, Sara, Mazarib, Aziz, Blatt, Ilan, Neufeld, Miriam Y., Helbig, Katherine L., Goldberg-Stern, Hadassa, Misk, Adel J., Straussberg, Rachel, Walid, Simri, Mahajnah, Muhammad, Lerman-Sagie, Tally, Ben-Zeev, Bruria, Kahana, Esther, Masalha, Rafik, Kramer, Uri, Ekstein, Dana, Shorer, Zamir, Wallace, Robyn H., Mangelsdorf, Marie, MacPherson, James N., Carvill, Gemma L., Mefford, Heather C., Jackson, Graeme D., Scheffer, Ingrid E., Bahlo, Melanie, Gecz, Jozef, Heron, Sarah E., Corbett, Mark, Mulley, John C., Dibbens, Leanne M., Korczyn, Amos D., Berkovic, Samuel F.

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Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing per Fliedner, Anna, Kirchner, Philipp, Wiesener, Antje, van de Beek, Irma, Waisfisz, Quinten, van Haelst, Mieke, Scott, Daryl A., Lalani, Seema R., Rosenfeld, Jill A., Azamian, Mahshid S., Xia, Fan, Dutra-Clarke, Marina, Martinez-Agosto, Julian A., Lee, Hane, Noh, Grace J., Lippa, Natalie, Alkelai, Anna, Aggarwal, Vimla, Agre, Katherine E., Gavrilova, Ralitza, Mirzaa, Ghayda M., Straussberg, Rachel, Cohen, Rony, Horist, Brooke, Krishnamurthy, Vidya, McWalter, Kirsty, Juusola, Jane, Davis-Keppen, Laura, Ohden, Lisa, van Slegtenhorst, Marjon, de Man, Stella A., Ekici, Arif B., Gregor, Anne, van de Laar, Ingrid, Zweier, Christiane

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