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Results: 1-18 |
Results: 18
EDUCATIONAL MATERIAL ON GENETICS FOR SCHOOLS - THE SCIENCE BEHIND THEJEANS FOR GENES DAY
Authors: PEMBREY M TIZZARD J
Citation: M. Pembrey et J. Tizzard, EDUCATIONAL MATERIAL ON GENETICS FOR SCHOOLS - THE SCIENCE BEHIND THEJEANS FOR GENES DAY, European journal of human genetics, 6(4), 1998, pp. 413-414
RECURRENCE RISKS IN OFFSPRING OF ADULTS WITH MAJOR HEART-DEFECTS - RESULTS FROM FIRST COHORT OF BRITISH COLLABORATIVE STUDY
Authors: BURN J BRENNAN P LITTLE J HOLLOWAY S COFFEY R SOMERVILLE J DENNIS NR ALLAN L ARNOLD R DEANFIELD JE GODMAN M HOUSTON A KEETON B OAKLEY C SCOTT O SILOVE E WILKINSON J PEMBREY M HUNTER AS
Citation: J. Burn et al., RECURRENCE RISKS IN OFFSPRING OF ADULTS WITH MAJOR HEART-DEFECTS - RESULTS FROM FIRST COHORT OF BRITISH COLLABORATIVE STUDY, Lancet, 351(9099), 1998, pp. 311-316
ISK AND KVLQT1 - MUTATION IN EITHER OF THE 2 SUBUNITS OF THE SLOW COMPONENT OF THE DELAYED RECTIFIER POTASSIUM CHANNEL CAN CAUSE JERVELL AND LANGE-NIELSEN-SYNDROME
Authors: TYSON J TRANEBJERG L BELLMAN S WREN C TAYLOR JFN BATHEN J ASLAKSEN B SORLAND SJ LUND O MALCOLM S PEMBREY M BHATTACHARYA S BITNERGLINDZICZ M
Citation: J. Tyson et al., ISK AND KVLQT1 - MUTATION IN EITHER OF THE 2 SUBUNITS OF THE SLOW COMPONENT OF THE DELAYED RECTIFIER POTASSIUM CHANNEL CAN CAUSE JERVELL AND LANGE-NIELSEN-SYNDROME, Human molecular genetics, 6(12), 1997, pp. 2179-2185
A GENE FOR FG-SYNDROME MAPS IN THE XQ12-Q21.31 REGION
Authors: BRIAULT S HILL R SHRIMPTON A ZHU DP TILL M RONCE N MARGARITTEJEANNIN P BARAITSER M MIDDLETONPRICE H MALCOLM S THOMPSON E HOO J WILSON G ROMANO C GUICHET A PEMBREY M FONTES M POUSTKA A MORAINE C
Citation: S. Briault et al., A GENE FOR FG-SYNDROME MAPS IN THE XQ12-Q21.31 REGION, American journal of medical genetics, 73(1), 1997, pp. 87-90
MANNOSE-BINDING LECTIN ALLELES IN A PROSPECTIVELY RECRUITED UK POPULATION
Authors: MEAD R JACK D PEMBREY M TYFIELD L TURNER M
Citation: R. Mead et al., MANNOSE-BINDING LECTIN ALLELES IN A PROSPECTIVELY RECRUITED UK POPULATION, Lancet, 349(9066), 1997, pp. 1669-1670
MUTATIONS IN ISK UNDERLIE JERVELL AND LANGE-NIELSEN-SYNDROME
Authors: BITNERGLINDZICZ M TYSON J TRANEBJAERG L BELLMAN S WREN C MALCOLM S PEMBREY M BHATTACHARYA S
Citation: M. Bitnerglindzicz et al., MUTATIONS IN ISK UNDERLIE JERVELL AND LANGE-NIELSEN-SYNDROME, Journal of Medical Genetics, 34, 1997, pp. 21-21
LOCALIZATION OF A GENE IMPLICATED IN A SEVERE SPEECH AND LANGUAGE DISORDER
Authors: FISHER SE VARGHAKHADEM F WATKINS K MONACO AP PEMBREY M
Citation: Se. Fisher et al., LOCALIZATION OF A GENE IMPLICATED IN A SEVERE SPEECH AND LANGUAGE DISORDER, American journal of human genetics, 61(4), 1997, pp. 142-142
ISK AND KVLQT1 - MUTATION IN EITHER OF THE 2 COMPONENTS OF THE DELAYED RECTIFIER POTASSIUM CHANNEL CAN CAUSE THE JERVELL-AND-LANGE-NIELSEN-SYNDROME
Authors: TYSON J TRANEBJAERG L BELLMAN S WREN C TAYLOR J BATHEN J ASLAKSEN B SORLAND SJ LUND O MALCOLM S PEMBREY M BHATTACHARYA S BITNERGLINDZICZ M
Citation: J. Tyson et al., ISK AND KVLQT1 - MUTATION IN EITHER OF THE 2 COMPONENTS OF THE DELAYED RECTIFIER POTASSIUM CHANNEL CAN CAUSE THE JERVELL-AND-LANGE-NIELSEN-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 2044-2044
PENDRED SYNDROME (GOITER AND SENSORINEURAL HEARING-LOSS) MAPS TO CHROMOSOME-7 IN THE REGION CONTAINING THE NONSYNDROMIC DEAFNESS GENE DFNB4
Authors: COYLE B COFFEY R ARMOUR JAL GAUSDEN E HOCHBERG Z GROSSMAN A BRITTON K PEMBREY M REARDON W TREMBATH R
Citation: B. Coyle et al., PENDRED SYNDROME (GOITER AND SENSORINEURAL HEARING-LOSS) MAPS TO CHROMOSOME-7 IN THE REGION CONTAINING THE NONSYNDROMIC DEAFNESS GENE DFNB4, Nature genetics, 12(4), 1996, pp. 421-423
THYROID PEROXIDASE - EVIDENCE FOR DISEASE GENE EXCLUSION IN PENDREDS-SYNDROME
Authors: GAUSDEN E ARMOUR JAL COYLE B COFFEY R HOCHBERG Z PEMBREY M BRITTON KE GROSSMAN A REARDON W TREMBATH R
Citation: E. Gausden et al., THYROID PEROXIDASE - EVIDENCE FOR DISEASE GENE EXCLUSION IN PENDREDS-SYNDROME, Clinical endocrinology, 44(4), 1996, pp. 441-446
DIPS ON BEKESY OR AUDIOSCAN FAIL TO IDENTIFY CARRIERS OF AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING-LOSS
Authors: COHEN M FRANCIS M LUXON LM BELLMAN S COFFEY R PEMBREY M
Citation: M. Cohen et al., DIPS ON BEKESY OR AUDIOSCAN FAIL TO IDENTIFY CARRIERS OF AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING-LOSS, Acta oto-laryngologica, 116(4), 1996, pp. 521-527
PHENOTYPIC MANIFESTATIONS OF BRANCHIOOTORENAL SYNDROME
Authors: CHEN A FRANCIS M NI L CREMERS CWRJ KIMBERLING WJ SATO Y PHELPS PD BELLMAN SC WAGNER MJ PEMBREY M SMITH RJH
Citation: A. Chen et al., PHENOTYPIC MANIFESTATIONS OF BRANCHIOOTORENAL SYNDROME, American journal of medical genetics, 58(4), 1995, pp. 365-370
ANGELMAN SYNDROME-ASSOCIATED WITH A MATERNAL 15Q11-13 DELETION OF LESS-THAN 200 KB
Authors: BUXTON JL CHAN CTJ GILBERT H CLAYTONSMITH J BURN J PEMBREY M MALCOLM S
Citation: Jl. Buxton et al., ANGELMAN SYNDROME-ASSOCIATED WITH A MATERNAL 15Q11-13 DELETION OF LESS-THAN 200 KB, Human molecular genetics, 3(8), 1994, pp. 1409-1413
X-LINKED MIXED DEAFNESS (DFN3) - CLONING AND CHARACTERIZATION OF THE CRITICAL REGION ALLOWS THE IDENTIFICATION OF NOVEL MICRODELETIONS
Authors: HUBER I BITNERGLINDZICZ M DEKOK YJM VANDERMAAREL SM ISHIKAWABRUSH Y MONACO AP ROBINSON D MALCOLM S PEMBREY M BRUNNER HG CREMERS FPM ROPERS HH
Citation: I. Huber et al., X-LINKED MIXED DEAFNESS (DFN3) - CLONING AND CHARACTERIZATION OF THE CRITICAL REGION ALLOWS THE IDENTIFICATION OF NOVEL MICRODELETIONS, Human molecular genetics, 3(7), 1994, pp. 1151-1154
FRAGILE-X SYNDROME IN NORTH-EAST ESSEX - TOWARDS SYSTEMATIC SCREENING- CLINICAL-SELECTION
Authors: SABARATNAM M LAVER S BUTLER L PEMBREY M
Citation: M. Sabaratnam et al., FRAGILE-X SYNDROME IN NORTH-EAST ESSEX - TOWARDS SYSTEMATIC SCREENING- CLINICAL-SELECTION, JIDR. Journal of intellectual disability research, 38, 1994, pp. 27-35
CONCORDANCE AND RECESSIVE INHERITANCE OF LEBER CONGENITAL AMAUROSIS
Authors: LAMBERT SR SHERMAN S TAYLOR D KRISS A COFFEY R PEMBREY M
Citation: Sr. Lambert et al., CONCORDANCE AND RECESSIVE INHERITANCE OF LEBER CONGENITAL AMAUROSIS, American journal of medical genetics, 46(3), 1993, pp. 275-277
TOWARDS CLONING OF A GENE FOR X-LINKED DEAFNESS
Authors: BACH I DEKOK YJM VANDEMAAREL SM ISHIKAWABRUSH Y MONACO AP BITNER M PEMBREY M CREMERS FPM ROPERS HH
Citation: I. Bach et al., TOWARDS CLONING OF A GENE FOR X-LINKED DEAFNESS, American journal of human genetics, 53(3), 1993, pp. 58-58
NEURO-OTOLOGIC FUNCTION IN X-LINKED HEARING-LOSS - A MULTIPEDIGREE ASSESSMENT AND CORRELATION WITH OTHER CLINICAL-PARAMETERS
Authors: REARDON W BELLMAN S PHELPS P PEMBREY M LUXON LM
Citation: W. Reardon et al., NEURO-OTOLOGIC FUNCTION IN X-LINKED HEARING-LOSS - A MULTIPEDIGREE ASSESSMENT AND CORRELATION WITH OTHER CLINICAL-PARAMETERS, Acta oto-laryngologica, 113(6), 1993, pp. 706-714
Risultati: 1-18 |