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INHERITED CHONDRODYSPLASIA PUNCTATA DUE TO A DELETION OF THE TERMINAL SHORT ARM OF AN X-CHROMOSOME
被引:173
作者
:
CURRY, CJR
论文数:
0
引用数:
0
h-index:
0
机构:
VALLEY CHILDRENS HOSP,DEPT CYTOGENET,FRESNO,CA 93703
CURRY, CJR
MAGENIS, RE
论文数:
0
引用数:
0
h-index:
0
机构:
VALLEY CHILDRENS HOSP,DEPT CYTOGENET,FRESNO,CA 93703
MAGENIS, RE
BROWN, M
论文数:
0
引用数:
0
h-index:
0
机构:
VALLEY CHILDRENS HOSP,DEPT CYTOGENET,FRESNO,CA 93703
BROWN, M
LANMAN, JT
论文数:
0
引用数:
0
h-index:
0
机构:
VALLEY CHILDRENS HOSP,DEPT CYTOGENET,FRESNO,CA 93703
LANMAN, JT
TSAI, J
论文数:
0
引用数:
0
h-index:
0
机构:
VALLEY CHILDRENS HOSP,DEPT CYTOGENET,FRESNO,CA 93703
TSAI, J
OLAGUE, P
论文数:
0
引用数:
0
h-index:
0
机构:
VALLEY CHILDRENS HOSP,DEPT CYTOGENET,FRESNO,CA 93703
OLAGUE, P
GOODFELLOW, P
论文数:
0
引用数:
0
h-index:
0
机构:
VALLEY CHILDRENS HOSP,DEPT CYTOGENET,FRESNO,CA 93703
GOODFELLOW, P
MOHANDAS, T
论文数:
0
引用数:
0
h-index:
0
机构:
VALLEY CHILDRENS HOSP,DEPT CYTOGENET,FRESNO,CA 93703
MOHANDAS, T
BERGNER, EA
论文数:
0
引用数:
0
h-index:
0
机构:
VALLEY CHILDRENS HOSP,DEPT CYTOGENET,FRESNO,CA 93703
BERGNER, EA
SHAPIRO, LJ
论文数:
0
引用数:
0
h-index:
0
机构:
VALLEY CHILDRENS HOSP,DEPT CYTOGENET,FRESNO,CA 93703
SHAPIRO, LJ
机构
:
[1]
VALLEY CHILDRENS HOSP,DEPT CYTOGENET,FRESNO,CA 93703
[2]
IMPERIAL CANC RES FUND,LONDON,ENGLAND
[3]
UNIV CALIF SAN FRANCISCO,MED EDUC PROGRAM,FRESNO,CA
[4]
OREGON HLTH SCI UNIV,DEPT MED GENET,PORTLAND,OR 97201
[5]
OREGON HLTH SCI UNIV,DEPT CYTOGENET,PORTLAND,OR 97201
[6]
UNIV CALIF LOS ANGELES,LOS ANGELES CTY HARBOR MED CTR,DEPT PEDIAT,TORRANCE,CA 90509
来源
:
NEW ENGLAND JOURNAL OF MEDICINE
|
1984年
/ 311卷
/ 16期
关键词
:
D O I
:
10.1056/NEJM198410183111603
中图分类号
:
R5 [内科学];
学科分类号
:
1002 ;
100201 ;
摘要
:
引用
收藏
页码:1010 / 1015
页数:6
相关论文
共 28 条
[1]
Y-TO-X-CHROMOSOME TRANSLOCATION OBSERVED IN 2 GENERATIONS
AKESSON, HO
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTHENBURG,E HOSP,DEPT PEDIAT,S-41685 GOTHENBURG,SWEDEN
UNIV GOTHENBURG,E HOSP,DEPT PEDIAT,S-41685 GOTHENBURG,SWEDEN
AKESSON, HO
HAGBERG, B
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTHENBURG,E HOSP,DEPT PEDIAT,S-41685 GOTHENBURG,SWEDEN
UNIV GOTHENBURG,E HOSP,DEPT PEDIAT,S-41685 GOTHENBURG,SWEDEN
HAGBERG, B
WAHLSTROM, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTHENBURG,E HOSP,DEPT PEDIAT,S-41685 GOTHENBURG,SWEDEN
UNIV GOTHENBURG,E HOSP,DEPT PEDIAT,S-41685 GOTHENBURG,SWEDEN
WAHLSTROM, J
[J].
HUMAN GENETICS,
1980,
55
(01)
: 39
-
42
[2]
ALLDERDICE PW, 1983, 34TH ANN M AM SOC HU
[3]
INCREASED CHOLESTEROL SULFATE IN PLASMA AND RED-BLOOD-CELL MEMBRANES OF STEROID SULFATASE DEFICIENT PATIENTS
BERGNER, EA
论文数:
0
引用数:
0
h-index:
0
BERGNER, EA
SHAPIRO, LJ
论文数:
0
引用数:
0
h-index:
0
SHAPIRO, LJ
[J].
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,
1981,
53
(01)
: 221
-
223
[4]
X-Y TRANSLOCATION IN A RETARDED PHENOTYPIC MALE - CLINICAL, CYTOGENETIC, BIOCHEMICAL, AND SERO-GENETIC STUDIES
BERNSTEIN, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WITWATERSRAND,DEPT PAEDIAT,JOHANNESBURG 2001,SOUTH AFRICA
BERNSTEIN, R
WAGNER, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WITWATERSRAND,DEPT PAEDIAT,JOHANNESBURG 2001,SOUTH AFRICA
WAGNER, J
ISDALE, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WITWATERSRAND,DEPT PAEDIAT,JOHANNESBURG 2001,SOUTH AFRICA
ISDALE, J
NURSE, GT
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WITWATERSRAND,DEPT PAEDIAT,JOHANNESBURG 2001,SOUTH AFRICA
NURSE, GT
LANE, AB
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WITWATERSRAND,DEPT PAEDIAT,JOHANNESBURG 2001,SOUTH AFRICA
LANE, AB
JENKINS, T
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WITWATERSRAND,DEPT PAEDIAT,JOHANNESBURG 2001,SOUTH AFRICA
JENKINS, T
[J].
JOURNAL OF MEDICAL GENETICS,
1978,
15
(06)
: 466
-
474
[5]
FERGUSONSMITH MA, 1982, CYTOGENET CELL GENET, V32, P273
[6]
QUANTITATIVE-ANALYSIS OF HIGH-RESOLUTION TRYPSIN-GIEMSA BANDS ON HUMAN PROMETAPHASE CHROMOSOMES
FRANCKE, U
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,SCH MED,DEPT PEDIAT,LA JOLLA,CA 92037
UNIV CALIF SAN DIEGO,SCH MED,DEPT PEDIAT,LA JOLLA,CA 92037
FRANCKE, U
OLIVER, N
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,SCH MED,DEPT PEDIAT,LA JOLLA,CA 92037
UNIV CALIF SAN DIEGO,SCH MED,DEPT PEDIAT,LA JOLLA,CA 92037
OLIVER, N
[J].
HUMAN GENETICS,
1978,
45
(02)
: 137
-
165
[7]
CHONDRODYSPLASIA PUNCTATA - RHIZOMELIC FORM - PATHOLOGIC AND RADIOLOGIC STUDIES OF 3 INFANTS
GILBERT, EF
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WISCONSIN,DEPT PATHOL,MADISON,WI 53706
GILBERT, EF
OPITZ, JM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WISCONSIN,DEPT PATHOL,MADISON,WI 53706
OPITZ, JM
SPRANGER, JW
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WISCONSIN,DEPT PATHOL,MADISON,WI 53706
SPRANGER, JW
LANGER, LO
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WISCONSIN,DEPT PATHOL,MADISON,WI 53706
LANGER, LO
WOLFSON, JJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WISCONSIN,DEPT PATHOL,MADISON,WI 53706
WOLFSON, JJ
VISESKUL, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WISCONSIN,DEPT PATHOL,MADISON,WI 53706
VISESKUL, C
[J].
EUROPEAN JOURNAL OF PEDIATRICS,
1976,
123
(02)
: 89
-
109
[8]
GENETIC-EVIDENCE THAT A Y-LINKED GENE IN MAN IS HOMOLOGOUS TO A GENE ON THE X-CHROMOSOME
GOODFELLOW, P
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV FREIBURG,INST HUMAN GENET & ANTROPOL,D-7800 FREIBURG,FED REP GER
GOODFELLOW, P
论文数:
引用数:
h-index:
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BANTING, G
SHEER, D
论文数:
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引用数:
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机构:
UNIV FREIBURG,INST HUMAN GENET & ANTROPOL,D-7800 FREIBURG,FED REP GER
SHEER, D
ROPERS, HH
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV FREIBURG,INST HUMAN GENET & ANTROPOL,D-7800 FREIBURG,FED REP GER
ROPERS, HH
CAINE, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV FREIBURG,INST HUMAN GENET & ANTROPOL,D-7800 FREIBURG,FED REP GER
CAINE, A
FERGUSONSMITH, MA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV FREIBURG,INST HUMAN GENET & ANTROPOL,D-7800 FREIBURG,FED REP GER
FERGUSONSMITH, MA
POVEY, S
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV FREIBURG,INST HUMAN GENET & ANTROPOL,D-7800 FREIBURG,FED REP GER
POVEY, S
VOSS, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV FREIBURG,INST HUMAN GENET & ANTROPOL,D-7800 FREIBURG,FED REP GER
VOSS, R
[J].
NATURE,
1983,
302
(5906)
: 346
-
349
[9]
A HUMAN X-LINKED ANTIGEN DEFINED BY A MONOCLONAL ANTIBODY
GOODFELLOW, P
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV OXFORD,RADCLIFFE INFIRM,NUFFIELD DEPT MED,OXFORD OX2 6HE,ENGLAND
GOODFELLOW, P
BANTING, G
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV OXFORD,RADCLIFFE INFIRM,NUFFIELD DEPT MED,OXFORD OX2 6HE,ENGLAND
BANTING, G
论文数:
引用数:
h-index:
机构:
LEVY, R
POVEY, S
论文数:
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引用数:
0
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机构:
UNIV OXFORD,RADCLIFFE INFIRM,NUFFIELD DEPT MED,OXFORD OX2 6HE,ENGLAND
POVEY, S
MCMICHAEL, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV OXFORD,RADCLIFFE INFIRM,NUFFIELD DEPT MED,OXFORD OX2 6HE,ENGLAND
MCMICHAEL, A
[J].
SOMATIC CELL GENETICS,
1980,
6
(06):
: 777
-
787
[10]
MATERNAL AND FETAL SEQUELAE OF ANTICOAGULATION DURING PREGNANCY
HALL, JG
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,SCH MED,DEPT MED,SEATTLE,WA 98195
HALL, JG
PAULI, RM
论文数:
0
引用数:
0
h-index:
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机构:
UNIV WASHINGTON,SCH MED,DEPT MED,SEATTLE,WA 98195
PAULI, RM
WILSON, KM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,SCH MED,DEPT MED,SEATTLE,WA 98195
WILSON, KM
[J].
AMERICAN JOURNAL OF MEDICINE,
1980,
68
(01)
: 122
-
140
←
1
2
3
→
共 28 条
[1]
Y-TO-X-CHROMOSOME TRANSLOCATION OBSERVED IN 2 GENERATIONS
AKESSON, HO
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTHENBURG,E HOSP,DEPT PEDIAT,S-41685 GOTHENBURG,SWEDEN
UNIV GOTHENBURG,E HOSP,DEPT PEDIAT,S-41685 GOTHENBURG,SWEDEN
AKESSON, HO
HAGBERG, B
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTHENBURG,E HOSP,DEPT PEDIAT,S-41685 GOTHENBURG,SWEDEN
UNIV GOTHENBURG,E HOSP,DEPT PEDIAT,S-41685 GOTHENBURG,SWEDEN
HAGBERG, B
WAHLSTROM, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GOTHENBURG,E HOSP,DEPT PEDIAT,S-41685 GOTHENBURG,SWEDEN
UNIV GOTHENBURG,E HOSP,DEPT PEDIAT,S-41685 GOTHENBURG,SWEDEN
WAHLSTROM, J
[J].
HUMAN GENETICS,
1980,
55
(01)
: 39
-
42
[2]
ALLDERDICE PW, 1983, 34TH ANN M AM SOC HU
[3]
INCREASED CHOLESTEROL SULFATE IN PLASMA AND RED-BLOOD-CELL MEMBRANES OF STEROID SULFATASE DEFICIENT PATIENTS
BERGNER, EA
论文数:
0
引用数:
0
h-index:
0
BERGNER, EA
SHAPIRO, LJ
论文数:
0
引用数:
0
h-index:
0
SHAPIRO, LJ
[J].
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,
1981,
53
(01)
: 221
-
223
[4]
X-Y TRANSLOCATION IN A RETARDED PHENOTYPIC MALE - CLINICAL, CYTOGENETIC, BIOCHEMICAL, AND SERO-GENETIC STUDIES
BERNSTEIN, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WITWATERSRAND,DEPT PAEDIAT,JOHANNESBURG 2001,SOUTH AFRICA
BERNSTEIN, R
WAGNER, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WITWATERSRAND,DEPT PAEDIAT,JOHANNESBURG 2001,SOUTH AFRICA
WAGNER, J
ISDALE, J
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引用数:
0
h-index:
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机构:
UNIV WITWATERSRAND,DEPT PAEDIAT,JOHANNESBURG 2001,SOUTH AFRICA
ISDALE, J
NURSE, GT
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0
引用数:
0
h-index:
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机构:
UNIV WITWATERSRAND,DEPT PAEDIAT,JOHANNESBURG 2001,SOUTH AFRICA
NURSE, GT
LANE, AB
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引用数:
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h-index:
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机构:
UNIV WITWATERSRAND,DEPT PAEDIAT,JOHANNESBURG 2001,SOUTH AFRICA
LANE, AB
JENKINS, T
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引用数:
0
h-index:
0
机构:
UNIV WITWATERSRAND,DEPT PAEDIAT,JOHANNESBURG 2001,SOUTH AFRICA
JENKINS, T
[J].
JOURNAL OF MEDICAL GENETICS,
1978,
15
(06)
: 466
-
474
[5]
FERGUSONSMITH MA, 1982, CYTOGENET CELL GENET, V32, P273
[6]
QUANTITATIVE-ANALYSIS OF HIGH-RESOLUTION TRYPSIN-GIEMSA BANDS ON HUMAN PROMETAPHASE CHROMOSOMES
FRANCKE, U
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,SCH MED,DEPT PEDIAT,LA JOLLA,CA 92037
UNIV CALIF SAN DIEGO,SCH MED,DEPT PEDIAT,LA JOLLA,CA 92037
FRANCKE, U
OLIVER, N
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,SCH MED,DEPT PEDIAT,LA JOLLA,CA 92037
UNIV CALIF SAN DIEGO,SCH MED,DEPT PEDIAT,LA JOLLA,CA 92037
OLIVER, N
[J].
HUMAN GENETICS,
1978,
45
(02)
: 137
-
165
[7]
CHONDRODYSPLASIA PUNCTATA - RHIZOMELIC FORM - PATHOLOGIC AND RADIOLOGIC STUDIES OF 3 INFANTS
GILBERT, EF
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WISCONSIN,DEPT PATHOL,MADISON,WI 53706
GILBERT, EF
OPITZ, JM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WISCONSIN,DEPT PATHOL,MADISON,WI 53706
OPITZ, JM
SPRANGER, JW
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0
引用数:
0
h-index:
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机构:
UNIV WISCONSIN,DEPT PATHOL,MADISON,WI 53706
SPRANGER, JW
LANGER, LO
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UNIV WISCONSIN,DEPT PATHOL,MADISON,WI 53706
LANGER, LO
WOLFSON, JJ
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机构:
UNIV WISCONSIN,DEPT PATHOL,MADISON,WI 53706
WOLFSON, JJ
VISESKUL, C
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0
引用数:
0
h-index:
0
机构:
UNIV WISCONSIN,DEPT PATHOL,MADISON,WI 53706
VISESKUL, C
[J].
EUROPEAN JOURNAL OF PEDIATRICS,
1976,
123
(02)
: 89
-
109
[8]
GENETIC-EVIDENCE THAT A Y-LINKED GENE IN MAN IS HOMOLOGOUS TO A GENE ON THE X-CHROMOSOME
GOODFELLOW, P
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV FREIBURG,INST HUMAN GENET & ANTROPOL,D-7800 FREIBURG,FED REP GER
GOODFELLOW, P
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BANTING, G
SHEER, D
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UNIV FREIBURG,INST HUMAN GENET & ANTROPOL,D-7800 FREIBURG,FED REP GER
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ROPERS, HH
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ROPERS, HH
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UNIV FREIBURG,INST HUMAN GENET & ANTROPOL,D-7800 FREIBURG,FED REP GER
CAINE, A
FERGUSONSMITH, MA
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h-index:
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机构:
UNIV FREIBURG,INST HUMAN GENET & ANTROPOL,D-7800 FREIBURG,FED REP GER
FERGUSONSMITH, MA
POVEY, S
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UNIV FREIBURG,INST HUMAN GENET & ANTROPOL,D-7800 FREIBURG,FED REP GER
POVEY, S
VOSS, R
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引用数:
0
h-index:
0
机构:
UNIV FREIBURG,INST HUMAN GENET & ANTROPOL,D-7800 FREIBURG,FED REP GER
VOSS, R
[J].
NATURE,
1983,
302
(5906)
: 346
-
349
[9]
A HUMAN X-LINKED ANTIGEN DEFINED BY A MONOCLONAL ANTIBODY
GOODFELLOW, P
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV OXFORD,RADCLIFFE INFIRM,NUFFIELD DEPT MED,OXFORD OX2 6HE,ENGLAND
GOODFELLOW, P
BANTING, G
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UNIV OXFORD,RADCLIFFE INFIRM,NUFFIELD DEPT MED,OXFORD OX2 6HE,ENGLAND
BANTING, G
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引用数:
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LEVY, R
POVEY, S
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UNIV OXFORD,RADCLIFFE INFIRM,NUFFIELD DEPT MED,OXFORD OX2 6HE,ENGLAND
POVEY, S
MCMICHAEL, A
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h-index:
0
机构:
UNIV OXFORD,RADCLIFFE INFIRM,NUFFIELD DEPT MED,OXFORD OX2 6HE,ENGLAND
MCMICHAEL, A
[J].
SOMATIC CELL GENETICS,
1980,
6
(06):
: 777
-
787
[10]
MATERNAL AND FETAL SEQUELAE OF ANTICOAGULATION DURING PREGNANCY
HALL, JG
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,SCH MED,DEPT MED,SEATTLE,WA 98195
HALL, JG
PAULI, RM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,SCH MED,DEPT MED,SEATTLE,WA 98195
PAULI, RM
WILSON, KM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,SCH MED,DEPT MED,SEATTLE,WA 98195
WILSON, KM
[J].
AMERICAN JOURNAL OF MEDICINE,
1980,
68
(01)
: 122
-
140
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