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Results:
1-24
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Results: 24
Authors:
KIRKPATRICK SJ
PAULI RM
Citation: Sj. Kirkpatrick et Rm. Pauli, FRONTONASAL MALFORMATION AND DELETION OF 22Q11, American journal of medical genetics, 75(4), 1998, pp. 443-444
Authors:
LOTENFOE JR
KWEE ML
ROOIMANS MA
OOSTRA AB
VEERMAN AJP
VANWEEL M
PAULI RM
SHAHIDI NT
DOKAL I
ROBERTS I
ALTAY C
GLUCKMAN E
GIBSON RA
MATHEW CG
ARWERT F
JOENJE H
Citation: Jr. Lotenfoe et al., SOMATIC MOSAICISM IN FANCONI-ANEMIA - MOLECULAR-BASIS AND CLINICAL-SIGNIFICANCE, European journal of human genetics, 5(3), 1997, pp. 137-148
Authors:
PAULI RM
BREED A
HORTON K
GLINSKI LP
REISER CA
Citation: Rm. Pauli et al., PREVENTION OF FIXED, ANGULAR KYPHOSIS IN ACHONDROPLASIA, Journal of pediatric orthopedics, 17(6), 1997, pp. 726-733
Authors:
FOWLER ES
GLINSKI LP
REISER CA
HORTON VK
PAULI RM
Citation: Es. Fowler et al., BIOPHYSICAL BASES FOR DELAYED AND ABERRANT MOTOR DEVELOPMENT IN YOUNG-CHILDREN WITH ACHONDROPLASIA, Journal of developmental and behavioral pediatrics, 18(3), 1997, pp. 143-150
Authors:
ASWEGAN AL
JOSEPHSON KD
MOWBRAY R
PAULI RM
SPRITZ RA
WILLIAMS MS
Citation: Al. Aswegan et al., AUTOSOMAL-DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA IN A LARGE FAMILY, American journal of medical genetics, 72(4), 1997, pp. 462-467
Authors:
DASGUPTA NR
PAULI RM
HORTON VK
REISER CA
Citation: Nr. Dasgupta et al., VALIDATION OF RADIOGRAPHIC CRITERIA FOR THE DIAGNOSIS OF DOWN-SYNDROME IN STILLBORN-INFANTS, American journal of medical genetics, 72(3), 1997, pp. 347-350
Authors:
BAKER KM
OLSON DS
HARDING CO
PAULI RM
Citation: Km. Baker et al., LONG-TERM SURVIVAL IN TYPICAL THANATOPHORIC DYSPLASIA TYPE-1, American journal of medical genetics, 70(4), 1997, pp. 427-436
Authors:
CONNERTONMOYER KJ
NICHOLLS RD
SCHWARTZ S
DRISCOLL DJ
HENDRICKSON JE
WILLIAMS CA
PAULI RM
Citation: Kj. Connertonmoyer et al., UNEXPECTED FAMILIAL RECURRENCE IN ANGELMAN SYNDROME, American journal of medical genetics, 70(3), 1997, pp. 253-260
Authors:
PAULI RM
WILLIAMS MS
JOSEPHSON KD
TINT GS
Citation: Rm. Pauli et al., SMITH-LEMLI-OPITZ-SYNDROME - 30-YEAR FOLLOW-UP OF S OF RSH SYNDROME, American journal of medical genetics, 68(3), 1997, pp. 260-262
Authors:
MCINTOSH L
CLOUGH MV
SCHAFFER AA
PUFFENBERGER EG
HORTON VK
PETERS K
ABBOTT MH
ROIG CM
CUTONE S
OZELIUS L
KWIATKOWSKI DJ
PYERITZ RE
BROWN LJ
PAULI RM
MCCORMICK MK
FRANCOMANO CA
Citation: L. Mcintosh et al., FINE MAPPING OF THE NAIL-PATELLA SYNDROME LOCUS AT 9Q34, American journal of human genetics, 60(1), 1997, pp. 133-142
Authors:
MODAFF P
HORTON VK
PAULI RM
Citation: P. Modaff et al., ERRORS IN THE PRENATAL-DIAGNOSIS OF CHILDREN WITH ACHONDROPLASIA, Prenatal diagnosis, 16(6), 1996, pp. 525-530
Authors:
HUNTER AGW
REID CS
PAULI RM
SCOTT CI
Citation: Agw. Hunter et al., STANDARD CURVES OF CHEST CIRCUMFERENCE IN ACHONDROPLASIA AND THE RELATIONSHIP OF CHEST CIRCUMFERENCE TO RESPIRATORY-PROBLEMS, American journal of medical genetics, 62(1), 1996, pp. 91-97
Authors:
WICKLUND CL
PAULI RM
JOHNSTON D
HECHT JT
Citation: Cl. Wicklund et al., NATURAL-HISTORY STUDY OF HEREDITARY MULTIPLE EXOSTOSES, American journal of medical genetics, 55(1), 1995, pp. 43-46
Authors:
MODAFF P
HORTON VK
PAULI RM
Citation: P. Modaff et al., ERRORS IN THE PRENATAL-DIAGNOSIS OF CHILDREN WITH ACHONDROPLASIA, American journal of human genetics, 57(4), 1995, pp. 1655-1655
Authors:
PAULI RM
Citation: Rm. Pauli, SURGICAL INTERVENTION IN ACHONDROPLASIA, American journal of human genetics, 56(6), 1995, pp. 1501-1502
Authors:
DEERE M
BLANTON SH
SCOTT CI
LANGER LO
PAULI RM
HECHT JT
Citation: M. Deere et al., GENETIC-HETEROGENEITY IN MULTIPLE EPIPHYSEAL DYSPLASIA, American journal of human genetics, 56(3), 1995, pp. 698-704
Authors:
PAULI RM
HORTON VK
GLINSKI LP
REISER CA
Citation: Rm. Pauli et al., PROSPECTIVE ASSESSMENT OF RISKS FOR CERVICOMEDULLARY-JUNCTION COMPRESSION IN INFANTS WITH ACHONDROPLASIA, American journal of human genetics, 56(3), 1995, pp. 732-744
Authors:
PAULI RM
REISER CA
LEBOVITZ RM
KIRKPATRICK SJ
Citation: Rm. Pauli et al., WISCONSIN STILLBIRTH SERVICE PROGRAM .1. ESTABLISHMENT AND ASSESSMENTOF A COMMUNITY-BASED PROGRAM FOR ETIOLOGIC INVESTIGATION OF INTRAUTERINE DEATHS, American journal of medical genetics, 50(2), 1994, pp. 116-134
Authors:
PAULI RM
REISER CA
Citation: Rm. Pauli et Ca. Reiser, WISCONSIN STILLBIRTH SERVICE PROGRAM .2. ANALYSIS OF DIAGNOSES AND DIAGNOSTIC CATEGORIES IN THE FIRST 1,000 REFERRALS, American journal of medical genetics, 50(2), 1994, pp. 135-153
Authors:
PAULI RM
Citation: Rm. Pauli, LOWER MESODERMAL DEFECTS - A COMMON-CAUSE OF FETAL AND EARLY NEONATALDEATH, American journal of medical genetics, 50(2), 1994, pp. 154-172
Authors:
KOEBERT MK
HAUN JM
PAULI RM
Citation: Mk. Koebert et al., TEMPORAL EVOLUTION OF RISK ESTIMATES FOR PRESUMED HUMAN TERATOGENS, Reproductive toxicology, 7(4), 1993, pp. 343-348
Authors:
LUDOWESE CJ
MARINI T
LAXOVA R
PAULI RM
Citation: Cj. Ludowese et al., EVALUATION OF THE EFFECTIVENESS OF A TERATOGEN INFORMATION-SERVICE - A SURVEY OF PATIENT AND PROFESSIONAL SATISFACTION, Teratology, 48(3), 1993, pp. 233-245
Authors:
COOK A
RASKIND W
BLANTON SH
PAULI RM
GREGG RG
FRANCOMANO CA
PUFFENBERGER E
CONRAD EU
SCHMALE G
SCHELLENBERG G
WIJSMAN E
HECHT JT
WELLS D
WAGNER MJ
Citation: A. Cook et al., GENETIC-HETEROGENEITY IN FAMILIES WITH HEREDITARY MULTIPLE EXOSTOSES, American journal of human genetics, 53(1), 1993, pp. 71-79
Authors:
ROBERTSON WL
GLINSKI LP
KIRKPATRICK SJ
PAULI RM
Citation: Wl. Robertson et al., FURTHER EVIDENCE THAT ARTHROGRYPOSIS MULTIPLEX CONGENITA IN THE HUMANSOMETIMES IS CAUSED BY AN INTRAUTERINE VASCULAR ACCIDENT, Teratology, 45(4), 1992, pp. 345-351
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1-24
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