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Results: 1-8 |
Results: 8
FUMARIC ACIDURIA - 8 NEW PATIENTS FROM A CONSANGUINEOUS PEDIGREE WITHNEW CLINICAL AND RADIOLOGIC FEATURES
Authors: HEIDENREICH RA ALECK KA TARBY TJ KERRIGAN JF
Citation: Ra. Heidenreich et al., FUMARIC ACIDURIA - 8 NEW PATIENTS FROM A CONSANGUINEOUS PEDIGREE WITHNEW CLINICAL AND RADIOLOGIC FEATURES, Journal of investigative medicine, 46(1), 1998, pp. 86-86
MULTIPLE MALFORMATION SYNDROME FOLLOWING FLUCONAZOLE USE IN PREGNANCY- REPORT OF AN ADDITIONAL PATIENT
Authors: ALECK KA BARTLEY DL
Citation: Ka. Aleck et Dl. Bartley, MULTIPLE MALFORMATION SYNDROME FOLLOWING FLUCONAZOLE USE IN PREGNANCY- REPORT OF AN ADDITIONAL PATIENT, American journal of medical genetics, 72(3), 1997, pp. 253-256
LONG-CHAIN 3-HYDROXYACYL-COG DEHYDROGENASE-DEFICIENCY (LCHAD) IN ASSOCIATION WITH MATERNAL ACUTE FATTY LIVER OF PREGNANCY (AFLP) - A CASE-REPORT AND CONSIDERATIONS FOR NEONATAL AND PRENATAL-DIAGNOSIS
Authors: ALECK KA HARRISON HH PARTAP A SHUB MD MILLER RA BENFORD SA TEDESCO TA ROE CR
Citation: Ka. Aleck et al., LONG-CHAIN 3-HYDROXYACYL-COG DEHYDROGENASE-DEFICIENCY (LCHAD) IN ASSOCIATION WITH MATERNAL ACUTE FATTY LIVER OF PREGNANCY (AFLP) - A CASE-REPORT AND CONSIDERATIONS FOR NEONATAL AND PRENATAL-DIAGNOSIS, Clinical chemistry, 43, 1997, pp. 443-443
OPITZ-SYNDROME IS GENETICALLY HETEROGENEOUS, WITH ONE LOCUS ON XP22, AND A 2ND LOCUS ON 22Q11.2
Authors: ROBIN NH FELDMAN GJ ARONSON AL MITCHELL HF WEKSBERG R LEONARD CO BURTON BK JOSEPHSON KD LAXOVA R ALECK KA ALLANSON JE GUIONALMEIDA ML MARTIN RA LEICHTMAN LG PRICE RA OPITZ JM MUENKE M
Citation: Nh. Robin et al., OPITZ-SYNDROME IS GENETICALLY HETEROGENEOUS, WITH ONE LOCUS ON XP22, AND A 2ND LOCUS ON 22Q11.2, Nature genetics, 11(4), 1995, pp. 459-461
BENIGN CLINICAL PRESENTATION OF 3-METHYLCROTONYLGLYCINURIA
Authors: PEARSON MA ALECK KA HEIDENREICH RA
Citation: Ma. Pearson et al., BENIGN CLINICAL PRESENTATION OF 3-METHYLCROTONYLGLYCINURIA, Journal of inherited metabolic disease, 18(5), 1995, pp. 640-641
UNUSUAL PRESENTATION OF 2-GENERATION VELO-CARDIO-FACIAL SYNDROME - HYDRONEPHROSIS DIAGNOSED ON PRENATAL ULTRASOUND
Authors: BARS JO ALECK KA FINBERG HJ GREBE TA
Citation: Jo. Bars et al., UNUSUAL PRESENTATION OF 2-GENERATION VELO-CARDIO-FACIAL SYNDROME - HYDRONEPHROSIS DIAGNOSED ON PRENATAL ULTRASOUND, American journal of human genetics, 57(4), 1995, pp. 447-447
AN INFANT WITH COMPLETE DUPLICATION OF 17Q
Authors: ALECK KA NUTTING PJ DELACRUZ TV
Citation: Ka. Aleck et al., AN INFANT WITH COMPLETE DUPLICATION OF 17Q, American journal of human genetics, 57(4), 1995, pp. 591-591
AGNATHIA MALFORMATION COMPLEX MAY BE COMPATIBLE WITH LONG-TERM SURVIVAL
Authors: PEARSON MA ALECK KA BEALS SP HUDGINS LH
Citation: Ma. Pearson et al., AGNATHIA MALFORMATION COMPLEX MAY BE COMPATIBLE WITH LONG-TERM SURVIVAL, American journal of human genetics, 53(3), 1993, pp. 480-480
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