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Results: 1-9 |
Results: 9
FREQUENCY OF RET MUTATIONS IN LONG-SEGMENT AND SHORT-SEGMENT HIRSCHSPRUNG DISEASE
Authors: SERI M YIN L BARONE V BOLINO A CELLI I BOCCIARDI R PASINI B CECCHERINI I LERONE M KRISTOFFERSSON U LARSSON LT CASASA JM CASS DT ABRAMOWICZ MJ VANDERWINDEN JM KRAVCENKIENE I BARIC I SILENGO M MARTUCCIELLO G ROMEO G
Citation: M. Seri et al., FREQUENCY OF RET MUTATIONS IN LONG-SEGMENT AND SHORT-SEGMENT HIRSCHSPRUNG DISEASE, Human mutation, 9(3), 1997, pp. 243-249
PROBING THE CAUSE OF THYROID DYSGENESIS
Authors: ABRAMOWICZ MJ VASSART G REFETOFF S
Citation: Mj. Abramowicz et al., PROBING THE CAUSE OF THYROID DYSGENESIS, Thyroid, 7(3), 1997, pp. 325-326
A FAMILIAL FORM OF PRIMARY PULMONARY-HYPE RTENSION
Authors: ABRAMOWICZ MJ
Citation: Mj. Abramowicz, A FAMILIAL FORM OF PRIMARY PULMONARY-HYPE RTENSION, Revue des maladies respiratoires, 14(5), 1997, pp. 339-340
FAMILIAL CONGENITAL HYPOTHYROIDISM DUE TO INACTIVATING MUTATION OF THE THYROTROPIN RECEPTOR CAUSING PROFOUND HYPOPLASIA OF THE THYROID-GLAND
Authors: ABRAMOWICZ MJ DUPREZ L PARMA J VASSART G HEINRICHS C
Citation: Mj. Abramowicz et al., FAMILIAL CONGENITAL HYPOTHYROIDISM DUE TO INACTIVATING MUTATION OF THE THYROTROPIN RECEPTOR CAUSING PROFOUND HYPOPLASIA OF THE THYROID-GLAND, The Journal of clinical investigation, 99(12), 1997, pp. 3018-3024
THROMBOSIS ASSOCIATED WITH OVARIAN HYPERSTIMULATION SYNDROME IN A CARRIER OF THE FACTOR-V LEIDEN MUTATION
Authors: HOLLEMAERT S WAUTRECHT JC CAPEL P ABRAMOWICZ MJ ENGLERT Y DELBAERE A
Citation: S. Hollemaert et al., THROMBOSIS ASSOCIATED WITH OVARIAN HYPERSTIMULATION SYNDROME IN A CARRIER OF THE FACTOR-V LEIDEN MUTATION, Thrombosis and haemostasis, 76(2), 1996, pp. 275-277
SLIGHT INSTABILITY OF A FMR-1 ALLELE OVER 3 GENERATIONS IN A FAMILY FROM THE GENERAL-POPULATION
Authors: ABRAMOWICZ MJ PARMA J COCHAUX P
Citation: Mj. Abramowicz et al., SLIGHT INSTABILITY OF A FMR-1 ALLELE OVER 3 GENERATIONS IN A FAMILY FROM THE GENERAL-POPULATION, American journal of medical genetics, 64(2), 1996, pp. 268-269
PERNICIOUS-ANEMIA AND HYPOPARATHYROIDISM IN A PATIENT WITH KEARNS-SAYRE SYNDROME WITH MITOCHONDRIAL-DNA DUPLICATION
Authors: ABRAMOWICZ MJ COCHAUX P COHEN LHF VAMOS E
Citation: Mj. Abramowicz et al., PERNICIOUS-ANEMIA AND HYPOPARATHYROIDISM IN A PATIENT WITH KEARNS-SAYRE SYNDROME WITH MITOCHONDRIAL-DNA DUPLICATION, Journal of inherited metabolic disease, 19(2), 1996, pp. 109-111
NEONATAL DIABETES-MELLITUS
Authors: ABRAMOWICZ MJ DORCHY H VAMOS E
Citation: Mj. Abramowicz et al., NEONATAL DIABETES-MELLITUS, The New England journal of medicine, 334(1), 1996, pp. 58-59
ISODISOMY OF CHROMOSOME-6 IN A NEWBORN WITH METHYLMALONIC ACIDEMIA AND AGENESIS OF PANCREATIC BETA-CELLS CAUSING DIABETES-MELLITUS
Authors: ABRAMOWICZ MJ ANDRIEN M DUPONT E DORCHY H PARMA J DUPREZ L LEDLEY FD COURTENS W VAMOS E
Citation: Mj. Abramowicz et al., ISODISOMY OF CHROMOSOME-6 IN A NEWBORN WITH METHYLMALONIC ACIDEMIA AND AGENESIS OF PANCREATIC BETA-CELLS CAUSING DIABETES-MELLITUS, The Journal of clinical investigation, 94(1), 1994, pp. 418-421
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