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Results: 1-13 |
Results: 13
A 3-BASE PAIR INSERTIONAL MUTATION IN THE CHOROIDEREMIA GENE
Authors: NESSLINGER N HORROCKS S RAY PN STRASBERG P MACDONALD IM
Citation: N. Nesslinger et al., A 3-BASE PAIR INSERTIONAL MUTATION IN THE CHOROIDEREMIA GENE, Human mutation, 1998, pp. 38-39
HOMOZYGOSITY FOR THE COMMON ASHKENAZI JEWISH TAY-SACHS -12 SPLICE-JUNCTION MUTATION - FIRST REPORT(1 IVS)
Authors: STRASBERG P WARREN I SKOMOROWSKI MA FEIGENBAUM A
Citation: P. Strasberg et al., HOMOZYGOSITY FOR THE COMMON ASHKENAZI JEWISH TAY-SACHS -12 SPLICE-JUNCTION MUTATION - FIRST REPORT(1 IVS), Human mutation, 10(1), 1997, pp. 82-83
MUTATION ANALYSIS IN CANADIAN FAMILIES WITH CHOROIDEREMIA
Authors: NESSLINGER N MITCHELL G STRASBERG P MACDONALD IM
Citation: N. Nesslinger et al., MUTATION ANALYSIS IN CANADIAN FAMILIES WITH CHOROIDEREMIA, Ophthalmic genetics, 17(2), 1996, pp. 47-52
NORMAL MITOCHONDRIAL-DNA AND RESPIRATORY-CHAIN ACTIVITY IN FAMILIAL DYSAUTONOMIA FIBROBLASTS
Authors: STRASBERG P BRIDGE P MERANTE F YEGER H PEREIRA J
Citation: P. Strasberg et al., NORMAL MITOCHONDRIAL-DNA AND RESPIRATORY-CHAIN ACTIVITY IN FAMILIAL DYSAUTONOMIA FIBROBLASTS, Biochemical and molecular medicine, 59(1), 1996, pp. 20-27
FISH DETECTION OF CHROMOSOME-15 DELETIONS IN PRADER-WILLI AND ANGELMAN SYNDROMES (VOL 62, PG 216, 1996)
Authors: TESHIMA I CHADWICK D CHITAYAT D KOBAYASHI J RAY P SHUMAN C SIEGELBARTELT J STRASBERG P WEKSBERG R
Citation: I. Teshima et al., FISH DETECTION OF CHROMOSOME-15 DELETIONS IN PRADER-WILLI AND ANGELMAN SYNDROMES (VOL 62, PG 216, 1996), American journal of medical genetics, 64(3), 1996, pp. 527-527
FISH DETECTION OF CHROMOSOME-15 DELETIONS IN PRADER-WILLI AND ANGELMAN SYNDROMES
Authors: TESHIMA I CHADWICK D CHITAYAT D KOBAYASHI J RAY P SHUMAN C SIEGELBARTELT J STRASBERG P WEKSBERG R
Citation: I. Teshima et al., FISH DETECTION OF CHROMOSOME-15 DELETIONS IN PRADER-WILLI AND ANGELMAN SYNDROMES, American journal of medical genetics, 62(3), 1996, pp. 216-223
MUTATION ANALYSIS OF CANADIAN FAMILIES WITH CHOROIDEREMIA
Authors: MACDONALD IM CHEN M MITCHELL G STRASBERG P KOENEKOOP R NESSLINGER N
Citation: Im. Macdonald et al., MUTATION ANALYSIS OF CANADIAN FAMILIES WITH CHOROIDEREMIA, Investigative ophthalmology & visual science, 37(3), 1996, pp. 5237-5237
X-LINKED SPONDYLOEPIPHYSEAL DYSPLASIA - A CLINICAL, RADIOLOGICAL, ANDMOLECULAR STUDY OF A LARGE KINDRED
Authors: MACKENZIE JJ FITZPATRICK J BABYN P FERRERO GB BALLABIO A BILLINGSLEY G BULMAN DE STRASBERG P RAY PN COSTA T
Citation: Jj. Mackenzie et al., X-LINKED SPONDYLOEPIPHYSEAL DYSPLASIA - A CLINICAL, RADIOLOGICAL, ANDMOLECULAR STUDY OF A LARGE KINDRED, Journal of Medical Genetics, 33(10), 1996, pp. 823-828
A NOVEL MUTATION IN THE NORRIE DISEASE GENE PREDICTED TO DISRUPT THE CYSTINE KNOT GROWTH-FACTOR MOTIF
Authors: STRASBERG P LIEDE HA STEIN T WARREN I SUTHERLAND J RAY PN
Citation: P. Strasberg et al., A NOVEL MUTATION IN THE NORRIE DISEASE GENE PREDICTED TO DISRUPT THE CYSTINE KNOT GROWTH-FACTOR MOTIF, Human molecular genetics, 4(11), 1995, pp. 2179-2180
ANOTHER TAY-SACHS PSEUDODEFICIENCY MUTATION IN THE SAME CODON AS PD-II IN AN ASHKENAZI JEWISH CARRIER - DILEMMAS OF PRENATAL-DIAGNOSIS
Authors: CALLAHAN JW WARREN I SKOMOROWSKI MA BABUL R CLARKE JTR STRASBERG P
Citation: Jw. Callahan et al., ANOTHER TAY-SACHS PSEUDODEFICIENCY MUTATION IN THE SAME CODON AS PD-II IN AN ASHKENAZI JEWISH CARRIER - DILEMMAS OF PRENATAL-DIAGNOSIS, American journal of human genetics, 57(4), 1995, pp. 1011-1011
FETAL MECONIUM PERITONITIS - ETIOLOGY AND PROGNOSIS
Authors: CHITAYAT D MOOLS S TOI A CONACHER S STRASBERG P BARLEVI F SERMER M FARRELL S CYTRYNBAUM C SIEGELBARTELT J VANALLEN M
Citation: D. Chitayat et al., FETAL MECONIUM PERITONITIS - ETIOLOGY AND PROGNOSIS, American journal of human genetics, 57(4), 1995, pp. 1606-1606
FETAL ECHOGENIC BOWEL - ETIOLOGY, SIGNIFICANCE AND OUTCOME
Authors: STRASBERG P CHITAYAT D MOOLA S TOI A SERMER M GARDNER A FARRELL S SUMMER A THOMAS M RAY R VANALLEN M
Citation: P. Strasberg et al., FETAL ECHOGENIC BOWEL - ETIOLOGY, SIGNIFICANCE AND OUTCOME, American journal of human genetics, 57(4), 1995, pp. 1681-1681
HOMOZYGOUS PRESENCE OF THE CROSSOVER (FUSION GENE) MUTATION IDENTIFIED IN A TYPE-II GAUCHER DISEASE FETUS - IS THIS ANALOGOUS TO THE GAUCHER KNOCK-OUT MOUSE MODEL
Authors: STRASBERG P SKOMOROWSKI M WARREN I CALLAHAN J CLARKE J
Citation: P. Strasberg et al., HOMOZYGOUS PRESENCE OF THE CROSSOVER (FUSION GENE) MUTATION IDENTIFIED IN A TYPE-II GAUCHER DISEASE FETUS - IS THIS ANALOGOUS TO THE GAUCHER KNOCK-OUT MOUSE MODEL, American journal of human genetics, 53(3), 1993, pp. 952-952
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