SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum
Heimer, G., Marek-Yagel, D., Eyal, E., Barel, O., Oz Levi, D., Hoffmann, C., Ruzzo, E.K., Ganelin-Cohen, E., Lancet, D., Pras, E., Rechavi, G., Nissenkorn, A., Anikster, Y., Goldstein, D.B., Ben Zeev, B.
Published in Clinical genetics (01.10.2015)
Published in Clinical genetics (01.10.2015)
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Journal Article
Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin
Heimer, G., Eyal, E., Zhu, X., Ruzzo, E.K., Marek-Yagel, D., Sagiv, Doron, Anikster, Y., Reznik-Wolf, H., Pras, E., Oz Levi, D., Lancet, D., Ben-Zeev, B., Nissenkorn, A.
Published in European journal of paediatric neurology (01.01.2018)
Published in European journal of paediatric neurology (01.01.2018)
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Journal Article
Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews
Weisz-Hubshman, M., Meirson, H., Michaelson-Cohen, R., Beeri, R., Tzur, S., Bormans, C., Modai, S., Shomron, N., Shilon, Y., Banne, E., Orenstein, N., Konen, O., Marek-Yagel, D., Veber, A., Shalva, N., Imagawa, E., Matsumoto, N., Lev, D., Lerman Sagie, T., Raas-Rothschild, A., Ben-Zeev, B., Basel-Salmon, L., Behar, D.M., Heimer, G.
Published in European journal of paediatric neurology (01.05.2019)
Published in European journal of paediatric neurology (01.05.2019)
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Journal Article
Creatine transporter deficiency: Novel mutations and functional studies
Ardon, O., Procter, M., Mao, R., Longo, N., Landau, Y.E., Shilon-Hadass, A., Gabis, L.V., Hoffmann, C., Tzadok, M., Heimer, G., Sada, S., Ben-Zeev, B., Anikster, Y.
Published in Molecular genetics and metabolism reports (01.09.2016)
Published in Molecular genetics and metabolism reports (01.09.2016)
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Journal Article
Mutations in AIFM1 cause a potentially treatable X-linked childhood cerebellar ataxia
Nissenkorn, A, Eyal, E, Zhou, X, Ruzzo, E.K, Goldstein, D.B, Anikster, Y, Pras, E, Oz-Levi, D, Lancet, D, Ben-Zeev, B, Heimer, G
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
The prevalence of urogenital symptoms in postmenopausal women
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Journal Article
Conference Proceeding
PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation
Chelban, Viorica, Wilson, Matthew P., Warman Chardon, Jodi, Vandrovcova, Jana, Zamba‐Papanicolaou, Eleni, Pope, Simon, Conte, Maria R., Abis, Giancarlo, Liu, Yo‐Tsen, Tribollet, Eloise, Haridy, Nourelhoda A., Botía, Juan A., Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Kernohan, Kristin D., Eaton, Alison, Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M., Foiani, Martha, Zetterberg, Henrik, Heales, Simon J. R., Rothman, James E., Clayton, Peter T., Houlden, Henry, Kriouile, Yamna, Aguennouz, Mhammed, Groppa, Stanislav, Marinova Karashova, Blagovesta, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez‐Dueñas, Belen, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Pineda‐Marfa, Mercedes, Ferrari, Michel D., van den Maagdenberg, Arn M J M, Verrotti, Alberto, Marseglia, Giangluigi, García‐Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Boles, Richard, Giunti, Paola, Chelban, Viorica, Salpietro, Vincenzo, Efthymiou, Stephanie, Kullmann, Dimitri, Kaiyrzhanov, Rauan, Sullivan, Roisin, Khan, Alaa Matooq, Yau, Wai Yan, Papanicolaou, Eleni Zamba, Maqbool, Shazia, Rana, Nuzhat Noureen, Atawneh, Osama, Shaikh, Farooq, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Borgione, Eugenia, Stojkovic, Tanya, Torti, Erin, Zollo, Massimi, Dauvilliers, Yves A., Rizig, Mie, Okubadejo, Njideka U., Ojo, Oluwadamilola O., Wahab, Kolawole, Bello, Abiodun H., Obiabo, Yahaya, Nwazor, Ernest, Iyagba, Alagoma, Taiwo, Lolade, Komolafe, Morenikeji, Oguntunde, Olapeju, Senkevich, Konstantin, Haridy, Nourelhoda, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Isrofilov, Maksud, Khachatryan, Samson, Silvestri, Gabriella, Bourinaris, Thomas, Fidani, Liana
Published in Annals of neurology (01.08.2019)
Published in Annals of neurology (01.08.2019)
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Journal Article
Socioeconomic inequalities in sexual victimisation in a nationally representative sample of the Swedish population
Deogan, Charlotte, Bergström, Jakob, Heimer, Gun, Mannheimer, Louise, Björkenstam, Charlotte
Published in Scandinavian journal of public health (01.06.2023)
Published in Scandinavian journal of public health (01.06.2023)
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Journal Article
Steroid hormone receptors in pelvic muscles and ligaments in women
Smith, P, Heimer, G, Norgren, A, Ulmsten, U
Published in Gynecologic and obstetric investigation (1990)
Published in Gynecologic and obstetric investigation (1990)
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Journal Article
Diagnosis and prevalence of persistent chlamydia infection in infertile women: tissue culture, direct antigen detection, and serology
Thejls, Henning, Gnarpe, Judy, Lundkvist, Örjan, Heimer, Gun, Larsson, Gregor, Victor, Arne
Published in Fertility and sterility (01.02.1991)
Published in Fertility and sterility (01.02.1991)
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Journal Article