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Results: 1-6 |
Results: 6

Authors: TSAI TF RAASROTHSCHILD A BENNERIAH Z BEAUDET AL
Citation: Tf. Tsai et al., PRENATAL-DIAGNOSIS AND CARRIER DETECTION FOR A POINT MUTATION IN UBE3A CAUSING ANGELMAN-SYNDROME, American journal of human genetics, 63(5), 1998, pp. 1561-1563

Authors: RAASROTHSCHILD A CORMIERDAIRE V BAO M BREWER K TOTH S ROES B ZEIGLER M CANFIELD WM MUNNICH A
Citation: A. Raasrothschild et al., VARIANT PSEUDO-HURLER-POLYDYSTROPHY (MUCOLIPIDOSIS TYPE-III) IS CAUSED BY TRUNCATION OF THE UDP-N-ACETYLGLUCOSAMINE-LYSOSOMAL ENZYME N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE GAMMA-SUBUNIT, American journal of human genetics, 61(4), 1997, pp. 138-138

Authors: RAASROTHSCHILD A MANOUVRIER S GONZALES M FARRIAUX JP LYONNET S MUNNICH A
Citation: A. Raasrothschild et al., REFINED MAPPING OF A GENE FOR SPLIT HAND SPLIT FOOT MALFORMATION (SHFM3) ON CHROMOSOME 10Q25, Journal of Medical Genetics, 33(12), 1996, pp. 996-1001

Authors: PELEG L KARPATI M GAZIT E RAASROTHSCHILD A GOLDMAN B
Citation: L. Peleg et al., MUTATIONS OF THE HEXOSAMINIDASE A GENE IN ASHKENAZI AND NON-ASHKENAZIJEWS, Biochemical medicine and metabolic biology, 52(1), 1994, pp. 22-26

Authors: HAMIEL OP RAASROTHSCHILD A UPADHYAYA M FRYDMAN M SAROVAPINHAS I BRAND N PASSWELL JH
Citation: Op. Hamiel et al., HEREDITARY MOTOR-SENSORY NEUROPATHY (CHARCOT-MARIE-TOOTH DISEASE) WITH NERVE DEAFNESS - A NEW VARIANT, The Journal of pediatrics, 123(3), 1993, pp. 431-434

Authors: ABELIOVICH D LERER I PASHUTLAVON I SHMUELI E RAASROTHSCHILD A FRYDMAN M
Citation: D. Abeliovich et al., NEGATIVE EXPANSION OF THE MYOTONIC-DYSTROPHY UNSTABLE SEQUENCE, American journal of human genetics, 52(6), 1993, pp. 1175-1181
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