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Results: 1-14 |
Results: 14
MATERNAL BALANCED TRANSLOCATION LEADING TO PARTIAL DUPLICATION OF 4Q AND PARTIAL DELETION OF IP IN A SON - CYTOGENETIC AND FISH STUDIES USING BAND-SPECIFIC PAINTING PROBES GENERATED BY CHROMOSOME MICRODISSECTION
Authors: CHEN Z GREBE TA GUAN XY NOTOHAMIPRODJO M NUTTING PJ STONE JF TRENT JM SANDBERG AA
Citation: Z. Chen et al., MATERNAL BALANCED TRANSLOCATION LEADING TO PARTIAL DUPLICATION OF 4Q AND PARTIAL DELETION OF IP IN A SON - CYTOGENETIC AND FISH STUDIES USING BAND-SPECIFIC PAINTING PROBES GENERATED BY CHROMOSOME MICRODISSECTION, American journal of medical genetics, 71(2), 1997, pp. 160-166
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA WITH NEONATAL DEATH DUE TO RESPIRATORY-FAILURE - MOLECULAR CONFIRMATION FOR SUBSEQUENT PRENATAL-DIAGNOSIS
Authors: GREBE TA COX SR BOGLE A KINNEARNY M KORKKO J
Citation: Ta. Grebe et al., SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA WITH NEONATAL DEATH DUE TO RESPIRATORY-FAILURE - MOLECULAR CONFIRMATION FOR SUBSEQUENT PRENATAL-DIAGNOSIS, American journal of human genetics, 61(4), 1997, pp. 555-555
BALANCED TRANSLOCATION 46,XY,T(2-15)(Q37.2-Q11.2) ASSOCIATED WITH ATYPICAL PRADER-WILLI-SYNDROME
Authors: CONROY JM GREBE TA BECKER LA TSUCHIYA K NICHOLLS RD BUITING K HORSTHEMKE B CASSIDY SB SCHWARTZ S
Citation: Jm. Conroy et al., BALANCED TRANSLOCATION 46,XY,T(2-15)(Q37.2-Q11.2) ASSOCIATED WITH ATYPICAL PRADER-WILLI-SYNDROME, American journal of human genetics, 61(2), 1997, pp. 388-394
EVALUATION OF CHILDHOOD HYPOTONIA
Authors: GREBE TA RICHTER SF
Citation: Ta. Grebe et Sf. Richter, EVALUATION OF CHILDHOOD HYPOTONIA, Journal of investigative medicine, 44(1), 1996, pp. 142-142
AUTOSOMAL-DOMINANT INHERITANCE OF HYPOTHALAMIC HAMARTOMA ASSOCIATED WITH POLYSYNDACTYLY - HETEROGENEITY OR VARIABLE EXPRESSIVITY
Authors: GREBE TA CLERICUZIO C
Citation: Ta. Grebe et C. Clericuzio, AUTOSOMAL-DOMINANT INHERITANCE OF HYPOTHALAMIC HAMARTOMA ASSOCIATED WITH POLYSYNDACTYLY - HETEROGENEITY OR VARIABLE EXPRESSIVITY, American journal of medical genetics, 66(2), 1996, pp. 129-137
CLINICAL AND GENETIC-ANALYSIS OF PALLISTER-HALL SYNDROME
Authors: BIESECKER LG KANG SM ALLEN JC GREBE TA CLERICUZIO CL OLNEY AH GRAHAM JM
Citation: Lg. Biesecker et al., CLINICAL AND GENETIC-ANALYSIS OF PALLISTER-HALL SYNDROME, Pediatric research, 39(4), 1996, pp. 470-470
A RATIONAL APPROACH TO CYSTIC-FIBROSIS MUTATION ANALYSIS IN HISPANICS- REPLY TO ARZIMANOGLOU ET-AL
Authors: GREBE TA DOANE WW RICHTER SF SELTZER WK JAIN KD
Citation: Ta. Grebe et al., A RATIONAL APPROACH TO CYSTIC-FIBROSIS MUTATION ANALYSIS IN HISPANICS- REPLY TO ARZIMANOGLOU ET-AL, American journal of human genetics, 59(1), 1996, pp. 269-271
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 UNUSUAL TRANSLOCATION WITHIN THE PRADER-WILLI ANGELMAN SYNDROME CRITICAL REGION ASSOCIATED WITH CLINICAL PRADER-WILLI-SYNDROME/
Authors: CONROY J GREBE TA WOLFF D BECKER L NICHOLLS RD HORSTHEMKE B BUITING K CASSIDY SB SCHWARTZ S
Citation: J. Conroy et al., AN UNUSUAL TRANSLOCATION WITHIN THE PRADER-WILLI ANGELMAN SYNDROME CRITICAL REGION ASSOCIATED WITH CLINICAL PRADER-WILLI-SYNDROME/, American journal of human genetics, 57(4), 1995, pp. 615-615
COMPLETE DETECTION OF MUTATIONS IN CYSTIC-FIBROSIS PATIENTS OF NATIVE-AMERICAN ORIGIN
Authors: MERCIER B RAGUENES O ESTIVILL X MORRAL N KAPLAN GC MCCLURE M GREBE TA KESSLER D PIGNATTI PF MARIGO C BOMBIERI C AUDREZET MP VERLINGUE C FEREC C
Citation: B. Mercier et al., COMPLETE DETECTION OF MUTATIONS IN CYSTIC-FIBROSIS PATIENTS OF NATIVE-AMERICAN ORIGIN, Human genetics, 94(6), 1994, pp. 629-632
GENETIC-ANALYSIS OF HISPANIC INDIVIDUALS WITH CYSTIC-FIBROSIS
Authors: GREBE TA SELTZER WK DEMARCHI J SILVA DK DOANE WW GOZAL D RICHTER SF BOWMAN CM NORMAN RA RHODES SN HERNRIED LS MURPHY S HARWOOD IR ACCURSO FJ JAIN KD
Citation: Ta. Grebe et al., GENETIC-ANALYSIS OF HISPANIC INDIVIDUALS WITH CYSTIC-FIBROSIS, American journal of human genetics, 54(3), 1994, pp. 443-446
FURTHER DELINEATION OF THE EPIDERMAL NEVUS SYNDROME - 2 CASES WITH NEW FINDINGS AND LITERATURE-REVIEW
Authors: GREBE TA RIMSZA ME RICHTER SF HANSEN RC HOYME HE
Citation: Ta. Grebe et al., FURTHER DELINEATION OF THE EPIDERMAL NEVUS SYNDROME - 2 CASES WITH NEW FINDINGS AND LITERATURE-REVIEW, American journal of medical genetics, 47(1), 1993, pp. 24-30
TOXIC REACTION TO SALICYLATE IN A NEWBORN-INFANT - SIMILARITIES TO NEONATAL SEPSIS
Authors: BUCK ML GREBE TA BOND GR
Citation: Ml. Buck et al., TOXIC REACTION TO SALICYLATE IN A NEWBORN-INFANT - SIMILARITIES TO NEONATAL SEPSIS, The Journal of pediatrics, 122(6), 1993, pp. 955-958
IDENTIFICATION OF ALL CFTR GENE-MUTATIONS IN THE PUEBLOS, A SOUTHWESTNATIVE-AMERICAN INDIAN POPULATION
Authors: FEREC C RAGUENES O KAPLAN G GREBE TA AUDREZET MP MCCLURE M KESSLER D PIGNATTI PF MERCIER B
Citation: C. Ferec et al., IDENTIFICATION OF ALL CFTR GENE-MUTATIONS IN THE PUEBLOS, A SOUTHWESTNATIVE-AMERICAN INDIAN POPULATION, American journal of human genetics, 53(3), 1993, pp. 800-800
Risultati: 1-14 |