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Results: 1-17 |
Results: 17
DELIMITING THE WOLF-HIRSCHHORN-SYNDROME CRITICAL REGION TO 750 KILOBASE PAIRS
Authors: ALTHERR MR WRIGHT TJ DENISON K PEREZCASTRO AV JOHNSON VP
Citation: Mr. Altherr et al., DELIMITING THE WOLF-HIRSCHHORN-SYNDROME CRITICAL REGION TO 750 KILOBASE PAIRS, American journal of medical genetics, 71(1), 1997, pp. 47-53
NEW SYNDROME OF SPONDYLOSPINAL THORACIC DYSOSTOSIS WITH MULTIPLE PTERYGIA AND ARTHROGRYPOSIS
Authors: JOHNSON VP KEPPEN LD CARPENTER MS RANDALL BB NEWBY PE
Citation: Vp. Johnson et al., NEW SYNDROME OF SPONDYLOSPINAL THORACIC DYSOSTOSIS WITH MULTIPLE PTERYGIA AND ARTHROGRYPOSIS, American journal of medical genetics, 69(1), 1997, pp. 73-78
TREATMENT OF SMITH-LEMLI-OPITZ SYNDROME - RESULTS OF A MULTICENTER TRIAL
Authors: IRONS M ELIAS ER ABUELO D BULL MJ GREENE CL JOHNSON VP KEPPEN L SCHANEN C TINT GS SALEN G
Citation: M. Irons et al., TREATMENT OF SMITH-LEMLI-OPITZ SYNDROME - RESULTS OF A MULTICENTER TRIAL, American journal of medical genetics, 68(3), 1997, pp. 311-314
MAGNETIC-RESONANCE-IMAGING OF BRAIN ANOMALIES IN FETAL-ALCOHOL-SYNDROME
Authors: SWAYZE VW JOHNSON VP HANSON JW PIVEN J SATO Y GIEDD JN MOSNIK D ANDREASEN NC
Citation: Vw. Swayze et al., MAGNETIC-RESONANCE-IMAGING OF BRAIN ANOMALIES IN FETAL-ALCOHOL-SYNDROME, Pediatrics, 99(2), 1997, pp. 232-240
THE DETECTION OF CONTIGUOUS GENE DELETIONS AT THE NEUROFIBROMATOSIS-1LOCUS WITH FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: LEPPIG KA VISKOCHIL D NEIL S RUBENSTEIN A JOHNSON VP ZHU XL BROTHMAN AR STEPHENS K
Citation: Ka. Leppig et al., THE DETECTION OF CONTIGUOUS GENE DELETIONS AT THE NEUROFIBROMATOSIS-1LOCUS WITH FLUORESCENCE IN-SITU HYBRIDIZATION, Cytogenetics and cell genetics, 72(1), 1996, pp. 95-98
UNIPARENTAL ISODISOMY OF CHROMOSOME-14 IN 2 CASES - AN ABNORMAL CHILDAND A NORMAL ADULT
Authors: PAPENHAUSEN PR MUELLER OT SUTCLIFFE M DIAMOND TM KOUSSEFF BG JOHNSON VP
Citation: Pr. Papenhausen et al., UNIPARENTAL ISODISOMY OF CHROMOSOME-14 IN 2 CASES - AN ABNORMAL CHILDAND A NORMAL ADULT, American journal of medical genetics, 66(1), 1996, pp. 90-90
DISTINCT 15Q GENOTYPES IN RUSSELL-SILVER AND RING-15 SYNDROMES
Authors: ROGAN PK SEIP JR DRISCOLL DJ PAPENHAUSEN PR JOHNSON VP RASKIN S WOODWARD AL BUTLER MG
Citation: Pk. Rogan et al., DISTINCT 15Q GENOTYPES IN RUSSELL-SILVER AND RING-15 SYNDROMES, American journal of medical genetics, 62(1), 1996, pp. 10-15
UNIPARENTAL ISODISOMY OF CHROMOSOME-14 IN 2 CASES - AN ABNORMAL CHILDAND A NORMAL ADULT
Authors: PAPENHAUSEN PR MUELLER OT JOHNSON VP SUTCLIFFE M DIAMOND TM KOUSSEFF BG
Citation: Pr. Papenhausen et al., UNIPARENTAL ISODISOMY OF CHROMOSOME-14 IN 2 CASES - AN ABNORMAL CHILDAND A NORMAL ADULT, American journal of medical genetics, 59(3), 1995, pp. 271-275
CORRELATION OF SEVERITY AND OUTCOME WITH PLASMA STEROL LEVELS IN VARIANTS OF THE SMITH-LEMLI-OPITZ SYNDROME
Authors: TINT GS SALEN G BATTA AK SHEFER S IRONS M ELIAS ER ABUELO DN JOHNSON VP LAMBERT M LUTZ R SCHANEN C MORRIS CA HOGANSON G HUGHESBENZIE R
Citation: Gs. Tint et al., CORRELATION OF SEVERITY AND OUTCOME WITH PLASMA STEROL LEVELS IN VARIANTS OF THE SMITH-LEMLI-OPITZ SYNDROME, The Journal of pediatrics, 127(1), 1995, pp. 82-87
TREATMENT OF SMITH-LEMLI-OPITZ SYNDROME (SLOS) - RESULTS OF A MULTICENTER TRIAL
Authors: IRONS M ELIAS ER ABUELO D BULL MJ GREENE CL JOHNSON VP KEPPEN L SCHANEN C TINT GS SALEN G
Citation: M. Irons et al., TREATMENT OF SMITH-LEMLI-OPITZ SYNDROME (SLOS) - RESULTS OF A MULTICENTER TRIAL, American journal of human genetics, 57(4), 1995, pp. 87-87
MOLECULAR-GENETIC ANALYSIS OF 15Q-]QTER MARKERS IN PATIENTS WITH RING-15 AND RUSSELL-SILVER-SYNDROMES
Authors: BUTLER MG WOODWARD AL DRISCOLL DJ PAPENHAUSEN PR JOHNSON VP RASKIN S ROGAN PK
Citation: Mg. Butler et al., MOLECULAR-GENETIC ANALYSIS OF 15Q-]QTER MARKERS IN PATIENTS WITH RING-15 AND RUSSELL-SILVER-SYNDROMES, Cytogenetics and cell genetics, 67(1), 1994, pp. 15-15
LINKAGE OF A GENE CAUSING FAMILIAL HOLOPROSENCEPHALY (HPE) TO CHROMOSOME 7Q36
Authors: MUENKE M GURRIERI F YI D BAY C COLLINS AL JOHNSON VP HENNEKAM RCM SCHAEFER GB LUBINSKY MS MOORE CA DOBYNS WB MURRAY JC PRICE RA
Citation: M. Muenke et al., LINKAGE OF A GENE CAUSING FAMILIAL HOLOPROSENCEPHALY (HPE) TO CHROMOSOME 7Q36, Cytogenetics and cell genetics, 65(1-2), 1994, pp. 70-71
DUPLICATION 10Q CONFIRMED BY DNA IN-SITU HYBRIDIZATION
Authors: JOHNSON VP SUTLIFF WC
Citation: Vp. Johnson et Wc. Sutliff, DUPLICATION 10Q CONFIRMED BY DNA IN-SITU HYBRIDIZATION, American journal of medical genetics, 52(2), 1994, pp. 184-187
FISH DETECTION OF WOLF-HIRSCHHORN SYNDROME - EXCLUSION OF D4F26 AS CRITICAL SITE
Authors: JOHNSON VP ALTHERR MR BLAKE JM KEPPEN LD
Citation: Vp. Johnson et al., FISH DETECTION OF WOLF-HIRSCHHORN SYNDROME - EXCLUSION OF D4F26 AS CRITICAL SITE, American journal of medical genetics, 52(1), 1994, pp. 70-74
LINKAGE OF A HUMAN BRAIN MALFORMATION, FAMILIAL HOLOPROSENCEPHALY, TOCHROMOSOME-7 AND EVIDENCE FOR GENETIC-HETEROGENEITY
Authors: MUENKE M GURRIERI F BAY C YI DH COLLINS AL JOHNSON VP HENNEKAM RCM SCHAEFER GB WEIK LA LUBINSKY MS DAACKHIRSCH S MOORE CA DOBYNS WB MURRAY JC PRICE RA
Citation: M. Muenke et al., LINKAGE OF A HUMAN BRAIN MALFORMATION, FAMILIAL HOLOPROSENCEPHALY, TOCHROMOSOME-7 AND EVIDENCE FOR GENETIC-HETEROGENEITY, Proceedings of the National Academy of Sciences of the United Statesof America, 91(17), 1994, pp. 8102-8106
LINKAGE OF FAMILIAL HOLOPROSENCEPHALY TO CHROMOSOME-7Q36 - CLINICAL AND MOLECULAR STUDIES
Authors: MUENKE M GURRIERI F YI D BAY C COLLINS AL JOHNSON VP HENNEKAM RCM SCHAEFER GB WEIK J LUBINSKY MS DAACKHERSH S MOORE CA DOBYNS WB MURRAY JC PRICE RA
Citation: M. Muenke et al., LINKAGE OF FAMILIAL HOLOPROSENCEPHALY TO CHROMOSOME-7Q36 - CLINICAL AND MOLECULAR STUDIES, American journal of human genetics, 53(3), 1993, pp. 1048-1048
ANALYSIS OF 15Q25-]QTER MARKERS IN PATIENTS WITH RING-15 AND RUSSELL-SILVER SYNDROMES
Authors: BUTLER MG DRISCOLL DJ PAPENHAUSEN PR JOHNSON VP ROGAN PK
Citation: Mg. Butler et al., ANALYSIS OF 15Q25-]QTER MARKERS IN PATIENTS WITH RING-15 AND RUSSELL-SILVER SYNDROMES, American journal of human genetics, 53(3), 1993, pp. 1135-1135
Risultati: 1-17 |