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Results: 1-10 |
Results: 10
SOMATIC AND GERM-LINE MOSAICISM AND MUTATION ORIGIN FOR A MUTATION INTHE L1 GENE IN A FAMILY WITH X-LINKED HYDROCEPHALUS
Authors: DU JS BASON L WOFFENDIN H ZACKAI E KENWRICK S
Citation: Js. Du et al., SOMATIC AND GERM-LINE MOSAICISM AND MUTATION ORIGIN FOR A MUTATION INTHE L1 GENE IN A FAMILY WITH X-LINKED HYDROCEPHALUS, American journal of medical genetics, 75(2), 1998, pp. 200-202
HYPOGLYCEMIA IS A FEATURE OF KABUKI-SYNDROME AND CAN BE DUE TO HYPERINSULINISM
Authors: MING JE SATINSMITH M BASON L STANLEY CA ZACKAL EH
Citation: Je. Ming et al., HYPOGLYCEMIA IS A FEATURE OF KABUKI-SYNDROME AND CAN BE DUE TO HYPERINSULINISM, American journal of human genetics, 61(4), 1997, pp. 604-604
RAPID PUBLICATION - AUTOSOMAL-DOMINANT OPITZ GBBB SYNDROME DUE TO A 22Q11.2 DELETION
Authors: MCDONALDMCGINN DM DRISCOLL DA BASON L CHRISTENSEN K LYNCH D SULLIVAN K CANNING D ZAVOD W QUINN N ROME J PARIS Y WEINBERG P CLARK BJ EMANUEL BS ZACKAI EH
Citation: Dm. Mcdonaldmcginn et al., RAPID PUBLICATION - AUTOSOMAL-DOMINANT OPITZ GBBB SYNDROME DUE TO A 22Q11.2 DELETION, American journal of medical genetics, 59(1), 1995, pp. 103-113
AUTOSOMAL-DOMINANT OPITZ SYNDROME SECONDARY TO A 22Q11.2 DELETION
Authors: MCDONALDMCGINN DM DRISCOLL DA BASON L CHRISTENSEN KM ZAVOD W CLARK BJ EMANUEL BS ZACKAI EH
Citation: Dm. Mcdonaldmcginn et al., AUTOSOMAL-DOMINANT OPITZ SYNDROME SECONDARY TO A 22Q11.2 DELETION, American journal of human genetics, 57(4), 1995, pp. 92-92
CYTOGENETIC ANALYSIS AS PART OF THE WORK-UP FOR SHORT STATURE IN THE ABSENCE OF DEVELOPMENTAL DELAY OR DYSMORPHIA
Authors: BASON L KRANTZ I PRETCHER J SPINNER NB ZACKAI EH
Citation: L. Bason et al., CYTOGENETIC ANALYSIS AS PART OF THE WORK-UP FOR SHORT STATURE IN THE ABSENCE OF DEVELOPMENTAL DELAY OR DYSMORPHIA, American journal of human genetics, 57(4), 1995, pp. 448-448
MOLECULAR-GENETICS GUIDES CLINICAL GENETICIST - BEDSIDE TO BENCH NOW A 2-WAY STREET
Authors: ZACKAI EH MCDONALDMCGINN DM BASON L BINGHAM P PELLEGRINO J BIEGEL J WOLFF DJ YOUNKIN D CHANCE PF SPINNER NB
Citation: Eh. Zackai et al., MOLECULAR-GENETICS GUIDES CLINICAL GENETICIST - BEDSIDE TO BENCH NOW A 2-WAY STREET, American journal of human genetics, 57(4), 1995, pp. 587-587
URINE LEVELS OF GLYCINE BETAINE AND SORBITOL IN PATIENTS WITH DIABETES-MELLITUS AND CHRONIC-RENAL-FAILURE
Authors: SIZELAND P CHAMBERS S LEVER M BASON L ROBSON R
Citation: P. Sizeland et al., URINE LEVELS OF GLYCINE BETAINE AND SORBITOL IN PATIENTS WITH DIABETES-MELLITUS AND CHRONIC-RENAL-FAILURE, Kidney international, 45(4), 1994, pp. 1267-1267
GLYCINE BETAINE IN HUMAN BLOOD AND URINE
Authors: SIZELAND P CHAMBERS S LEVER M BASON L ROBSON R
Citation: P. Sizeland et al., GLYCINE BETAINE IN HUMAN BLOOD AND URINE, Kidney international, 45(4), 1994, pp. 1275-1275
SHORT-TERM RESPONSE OF THE OSMOPROTECTANTS TO FLUID DEPRIVATION
Authors: SIZELAND P CHAMBERS S LEVER M BASON L ROBSON R
Citation: P. Sizeland et al., SHORT-TERM RESPONSE OF THE OSMOPROTECTANTS TO FLUID DEPRIVATION, Kidney international, 45(4), 1994, pp. 1277-1277
REPORTER EPITOPES - A NOVEL-APPROACH TO EXAMINE TRANSMEMBRANE TOPOLOGY OF INTEGRAL MEMBRANE-PROTEINS APPLIED TO THE ALPHA-1 SUBUNIT OF THE NICOTINIC ACETYLCHOLINE-RECEPTOR
Authors: ANAND R BASON L SAEDI MS GERZANICH V PENG X LINDSTROM J
Citation: R. Anand et al., REPORTER EPITOPES - A NOVEL-APPROACH TO EXAMINE TRANSMEMBRANE TOPOLOGY OF INTEGRAL MEMBRANE-PROTEINS APPLIED TO THE ALPHA-1 SUBUNIT OF THE NICOTINIC ACETYLCHOLINE-RECEPTOR, Biochemistry, 32(38), 1993, pp. 9975-9984
Risultati: 1-10 |