Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts
Molinari, F, Kaminska, A, Fiermonte, G, Boddaert, N, Raas‐Rothschild, A, Plouin, P, Palmieri, L, Brunelle, F, Palmieri, F, Dulac, O, Munnich, A, Colleaux, L
Published in Clinical genetics (01.08.2009)
Published in Clinical genetics (01.08.2009)
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Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone‐mediated tubulinopathy
Pode‐Shakked, B., Barash, H., Ziv, L., Gripp, K.W., Flex, E., Barel, O., Carvalho, K.S., Scavina, M., Chillemi, G., Niceta, M., Eyal, E., Kol, N., Ben‐Zeev, B., Bar‐Yosef, O., Marek‐Yagel, D., Bertini, E., Duker, A.L., Anikster, Y., Tartaglia, M., Raas‐Rothschild, A.
Published in Clinical genetics (01.05.2017)
Published in Clinical genetics (01.05.2017)
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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
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations
Ghalamkarpour, A, Morlot, S, Raas-Rothschild, A, Utkus, A, Mulliken, JB, Boon, LM, Vikkula, M
Published in Clinical genetics (01.10.2006)
Published in Clinical genetics (01.10.2006)
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Journal Article
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity
Coutinho, MF, Encarnação, M, Gomes, R, da Silva Santos, L, Martins, S, Sirois-Gagnon, D, Bargal, R, Filocamo, M, Raas-Rothschild, A, Tappino, B, Laprise, C, Cury, GK, Schwartz, IV, Artigalás, O, Prata, MJ, Alves, S
Published in Clinical genetics (01.09.2011)
Published in Clinical genetics (01.09.2011)
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Journal Article
TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping
Maydan, G., Andresen, B. S., Madsen, P. P., Zeigler, M., Raas‐Rothschild, A., Zlotogorski, A., Gutman, A., Korman, S. H.
Published in Journal of inherited metabolic disease (01.10.2006)
Published in Journal of inherited metabolic disease (01.10.2006)
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Journal Article
A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15
Morlé, L., Bozon, M., Zech, J.-C., Alloisio, N., Raas-Rothschild, A., Philippe, C., Lambert, J.-C., Godet, J., Plauchu, H., Edery, P.
Published in American journal of human genetics (01.12.2000)
Published in American journal of human genetics (01.12.2000)
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Journal Article
Prenatal ultrasonographic diagnosis of atypical Nonne–Milroy lymphedema
Lev‐Sagie, A., Hamani, Y., Raas‐Rothschild, A., Yagel, S., Anteby, E. Y.
Published in Ultrasound in obstetrics & gynecology (01.01.2003)
Published in Ultrasound in obstetrics & gynecology (01.01.2003)
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Journal Article
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome
Vega, H, Trainer, A H, Gordillo, M, Crosier, M, Kayserili, H, Skovby, F, Uzielli, M L Giovannucci, Schnur, R E, Manouvrier, S, Blair, E, Hurst, J A, Forzano, F, Meins, M, Simola, K O J, Raas-Rothschild, A, Hennekam, R C M, Jabs, E Wang
Published in Journal of medical genetics (01.01.2010)
Published in Journal of medical genetics (01.01.2010)
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Journal Article
Mucolipidosis III type C: first-trimester biochemical and molecular prenatal diagnosis
Falik-Zaccai, T. C., Zeigler, M., Bargal, R., Bach, G., Borochowitz, Z., Raas-Rothschild, A.
Published in Prenatal diagnosis (01.03.2003)
Published in Prenatal diagnosis (01.03.2003)
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Journal Article
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III
Raas-Rothschild, A, Bargal, R, Goldman, O, Ben-Asher, E, Groener, J E M, Toutain, A, Stemmer, E, Ben-Neriah, Z, Flusser, H, Beemer, F A, Penttinen, M, Olender, T, Rein, A J J T, Bach, G, Zeigler, M
Published in Journal of medical genetics (01.04.2004)
Published in Journal of medical genetics (01.04.2004)
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Journal Article
Home-based infusion therapy for patients with Fabry disease
Cousins, A, Lee, P, Rorman, D, Raas-Rothschild, A, Banikazemi, M, Waldek, S, Thompson, L
Published in British journal of nursing (Mark Allen Publishing) (22.05.2008)
Published in British journal of nursing (Mark Allen Publishing) (22.05.2008)
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Journal Article
Rhabdomyoma in the fetus: illustration of tumor growth during the second half of gestation
Nir, A, Ekstein, S, Nadjari, M, Raas-Rothschild, A, Rein, A J
Published in Pediatric cardiology (01.11.2001)
Published in Pediatric cardiology (01.11.2001)
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Journal Article
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25
Raas-Rothschild, A, Manouvrier, S, Gonzales, M, Farriaux, J P, Lyonnet, S, Munnich, A
Published in Journal of medical genetics (01.12.1996)
Published in Journal of medical genetics (01.12.1996)
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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
Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities
Raas-Rothschild, A, Nir, A, Ergaz, Z, Bar Ziv, J, Rein, A J
Published in American journal of medical genetics (04.06.1999)
Published in American journal of medical genetics (04.06.1999)
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Journal Article
Negative expansion of the myotonic dystrophy unstable sequence
ABELIOVICH, D, LERER, I, PASHUT-LAVON, I, SHMUELI, E, RAAS-ROTHSCHILD, A, FRYDMAN, M
Published in American journal of human genetics (01.06.1993)
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Published in American journal of human genetics (01.06.1993)
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