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Results:
1-14
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Results: 14
Authors:
SHEN JJ
LIU HM
MCCONKIEROSELL A
CHEN YT
Citation: Jj. Shen et al., PRENATAL-DIAGNOSIS AND CARRIER DETECTION FOR GLYCOGEN-STORAGE-DISEASETYPE-III USING POLYMORPHIC DNA MARKERS, Prenatal diagnosis, 18(1), 1998, pp. 61-64
Authors:
VEIGADACUNHA M
GERIN I
CHEN YT
DEBARSY T
DELONLAY P
DIONISIVICI C
FENSKE CD
LEE PJ
LEONARD JV
MAIRE I
MCCONKIEROSELL A
SCHWEITZER S
VIKKULA M
VANSCHAFTINGEN E
Citation: M. Veigadacunha et al., A GENE ON CHROMOSOME 11Q23 CODING FOR A PUTATIVE GLUCOSE-6-PHOSPHATE TRANSLOCASE IS MUTATED IN GLYCOGEN-STORAGE-DISEASE TYPES IB AND IC, American journal of human genetics, 63(4), 1998, pp. 976-983
Authors:
MCCONKIEROSELL A
SPIRIDIGLIOZZI GA
IAFOLLA T
TARLETON J
LACHIEWICZ AM
Citation: A. Mcconkierosell et al., CARRIER TESTING IN THE FRAGILE-X-SYNDROME - ATTITUDES AND OPINIONS OFOBLIGATE CARRIERS, American journal of medical genetics, 68(1), 1997, pp. 62-69
Authors:
LACHIEWICZ AM
SPIRIDIGLIOZZI GA
MCCONKIEROSELL A
BURGESS D
FENG Y
WARREN ST
TARLETON J
Citation: Am. Lachiewicz et al., A FRAGILE-X MALE WITH A BROAD SMEAR ON SOUTHERN BLOT ANALYSIS REPRESENTING 100-500 CGG REPEATS AND NO METHYLATION AT THE EAGI SITE OF THE FMR-1 GENE, American journal of medical genetics, 64(2), 1996, pp. 278-282
Authors:
MCCONKIEROSELL A
WILSON C
PICCOLI DA
BOYLE J
DECLUE T
KISHNANI P
SHEN JJ
BONEY A
BROWN B
CHEN YT
Citation: A. Mcconkierosell et al., CLINICAL AND LABORATORY FINDINGS IN 4 PATIENTS WITH THE NONPROGRESSIVE HEPATIC FORM OF TYPE-IV GLYCOGEN-STORAGE-DISEASE, Journal of inherited metabolic disease, 19(1), 1996, pp. 51-58
Authors:
BRIX AE
HOWERTH EW
MCCONKIEROSELL A
PETERSON D
EGNOR D
WELLS MR
CHEN YT
Citation: Ae. Brix et al., GLYCOGEN-STORAGE-DISEASE TYPE IA IN 2 LITTERMATE MALTESE PUPPIES, Veterinary pathology, 32(5), 1995, pp. 460-465
Authors:
MCCONKIEROSELL A
ROBINSON H
WAKE S
STALEY LW
HELLER K
CRONISTER A
Citation: A. Mcconkierosell et al., DISSEMINATION OF GENETIC RISK INFORMATION TO RELATIVES IN THE FRAGILE-X SYNDROME - GUIDELINES FOR GENETIC COUNSELORS, American journal of medical genetics, 59(4), 1995, pp. 426-430
Authors:
VANHOVE JLK
SPIRIDIGLIOZZI GA
HEINZ R
MCCONKIEROSELL A
IAFOLLA AK
KAHLER SG
Citation: Jlk. Vanhove et al., FRYNS SYNDROME SURVIVORS AND NEUROLOGIC OUTCOME, American journal of medical genetics, 59(3), 1995, pp. 334-340
Authors:
KISHNANI P
IAFOLLA AK
MCCONKIEROSELL A
VANHOVE JLK
KANTER RJ
KAHLER SG
Citation: P. Kishnani et al., HEMANGIOMA, SUPRAUMBILICAL MIDLINE RAPHE, AND COARCTATION OF THE AORTA WITH A RIGHT AORTIC-ARCH - SINGLE CAUSAL ENTITY, American journal of medical genetics, 59(1), 1995, pp. 44-48
Authors:
DECKERPHILLIPS M
MCCONKIEROSELL A
QUMSIYEH MB
IAFOLLA AK
Citation: M. Deckerphillips et al., NOVEL UNBALANCED TRANSLOCATION - 46,XX,DER(11)T(1112)(Q24-P11.2), American journal of human genetics, 57(4), 1995, pp. 1793-1793
Authors:
LEI KJ
CHEN YT
CHEN HW
WONG LJC
LIU JL
MCCONKIEROSELL A
VANHOVE JLK
OU HCY
YEH NJ
PAN LY
CHOU JY
Citation: Kj. Lei et al., GENETIC-BASIS OF GLYCOGEN-STORAGE-DISEASE TYPE 1A - PREVALENT MUTATIONS AT THE GLUCOSE-6-PHOSPHATASE LOCUS, American journal of human genetics, 57(4), 1995, pp. 766-771
Authors:
THOMPSON JN
HUFFMAN P
MCCONKIEROSELL A
HESSLING J
Citation: Jn. Thompson et al., PRENATAL-DIAGNOSIS OF SANFILIPPO SYNDROME TYPE A BY EARLY AMNIOCENTESIS, Biochemistry and molecular biology international, 29(5), 1993, pp. 793-797
Authors:
MCCONKIEROSELL A
LACHIEWICZ AM
SPIRIDIGLIOZZI GA
TARLETON J
SCHOENWALD S
PHELAN MC
GOONEWARDENA P
DING XH
BROWN WT
Citation: A. Mcconkierosell et al., EVIDENCE THAT METHYLATION OF THE FMR-I LOCUS IS RESPONSIBLE FOR VARIABLE PHENOTYPIC-EXPRESSION OF THE FRAGILE-X SYNDROME, American journal of human genetics, 53(4), 1993, pp. 800-809
Authors:
KISHNANI P
MCCONKIEROSELL A
Citation: P. Kishnani et A. Mcconkierosell, UNIQUE INTERSTITIAL DELETION OF CHROMOSOME 2Q - PHENOTYPE AND CLINICAL MANIFESTATIONS, American journal of human genetics, 53(3), 1993, pp. 464-464
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