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Results: 1-14 |
Results: 14
LYMPHEDEMA AS A POSTULATED CAUSE OF CUTIS-VERTICIS-GYRATA IN TURNER-SYNDROME
Authors: LARRALDE M GARDNER SS TORRADO MD FERNHOFF PM MUNOZ AES SPRAKER MK SYBERT VP
Citation: M. Larralde et al., LYMPHEDEMA AS A POSTULATED CAUSE OF CUTIS-VERTICIS-GYRATA IN TURNER-SYNDROME, Pediatric dermatology, 15(1), 1998, pp. 18-22
POPULATION STUDY OF CONGENITAL HYPOTHYROIDISM AND ASSOCIATED BIRTH-DEFECTS, ATLANTA, 1979-1992
Authors: ROBERTS HE MOORE CA FERNHOFF PM BROWN AL KHOURY MJ
Citation: He. Roberts et al., POPULATION STUDY OF CONGENITAL HYPOTHYROIDISM AND ASSOCIATED BIRTH-DEFECTS, ATLANTA, 1979-1992, American journal of medical genetics, 71(1), 1997, pp. 29-32
FUNCTIONAL-CHARACTERIZATION OF THE CARNITINE TRANSPORTER DEFECTIVE INPRIMARY CARNITINE DEFICIENCY
Authors: SCAGLIA F WANG Y SINGH RH DEMBURE PP PASQUALI M EVINGER JD BAGNASCO S FERNHOFF PM LONGO N
Citation: F. Scaglia et al., FUNCTIONAL-CHARACTERIZATION OF THE CARNITINE TRANSPORTER DEFECTIVE INPRIMARY CARNITINE DEFICIENCY, American journal of human genetics, 61(4), 1997, pp. 1517-1517
ABSTRACTS FOR THE 9TH ANNUAL SCIENTIFIC CONFERENCE OF THE PRADER-WILLI-SYNDROME (PWS) ASSOCIATION - INTRODUCTION
Authors: FERNHOFF PM
Citation: Pm. Fernhoff, ABSTRACTS FOR THE 9TH ANNUAL SCIENTIFIC CONFERENCE OF THE PRADER-WILLI-SYNDROME (PWS) ASSOCIATION - INTRODUCTION, American journal of medical genetics, 62(3), 1996, pp. 205-205
UNIQUE MOSAICISM OF TETRAPLOIDY AND TRISOMY-8 - CLINICAL, CYTOGENETIC, AND MOLECULAR FINDINGS IN A LIVE-BORN INFANT
Authors: ROBERTS HE SAXE DF MURALIDHARAN K COLEMAN KB ZACHARIAS JF FERNHOFF PM
Citation: He. Roberts et al., UNIQUE MOSAICISM OF TETRAPLOIDY AND TRISOMY-8 - CLINICAL, CYTOGENETIC, AND MOLECULAR FINDINGS IN A LIVE-BORN INFANT, American journal of medical genetics, 62(3), 1996, pp. 243-246
PETERS ANOMALY - ASSOCIATED CONGENITAL-MALFORMATIONS AND ETIOLOGY
Authors: YANG LLH LAMBERT SR FERNHOFF PM STULTING RD
Citation: Llh. Yang et al., PETERS ANOMALY - ASSOCIATED CONGENITAL-MALFORMATIONS AND ETIOLOGY, Investigative ophthalmology & visual science, 36(4), 1995, pp. 41-41
IMPACT OF PRENATAL-DIAGNOSIS ON THE BIRTH PREVALENCE OF NEURAL-TUBE DEFECTS, ATLANTA, 1990-1991
Authors: ROBERTS HE MOORE CA CRAGAN JD FERNHOFF PM KHOURY MJ
Citation: He. Roberts et al., IMPACT OF PRENATAL-DIAGNOSIS ON THE BIRTH PREVALENCE OF NEURAL-TUBE DEFECTS, ATLANTA, 1990-1991, Pediatrics, 96(5), 1995, pp. 880-883
A UNIQUE MOSAICISM OF TETRAPLOIDY AND TRISOMY-8 - CLINICAL, CYTOGENETIC AND MOLECULAR FINDINGS IN A LIVE-BORN INFANT
Authors: ROBERTS HE SAXE DE MURALIDHARAN K COLEMAN KB ZACHARIAS JF FERNHOFF PM
Citation: He. Roberts et al., A UNIQUE MOSAICISM OF TETRAPLOIDY AND TRISOMY-8 - CLINICAL, CYTOGENETIC AND MOLECULAR FINDINGS IN A LIVE-BORN INFANT, American journal of human genetics, 57(4), 1995, pp. 697-697
CORNEAL OPACITIES IN SPONDYLOEPIPHYSEAL DYSPLASIA TARDA
Authors: WELLS JA ELLERINE NP FERNHOFF PM WARING GO
Citation: Ja. Wells et al., CORNEAL OPACITIES IN SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, Cornea, 13(3), 1994, pp. 280-283
A MOLECULAR APPROACH TO GALACTOSEMIA
Authors: ELSAS LJ LANGLEY SD PAULK EM FERNHOFF PM DEMBURE PP
Citation: Lj. Elsas et al., A MOLECULAR APPROACH TO GALACTOSEMIA, Pediatric research, 35(4), 1994, pp. 10000151-10000151
DYE USE DURING AMNIOCENTESIS AND BIRTH-DEFECTS
Authors: CRAGAN JD MARTIN ML KHOURY MJ FERNHOFF PM
Citation: Jd. Cragan et al., DYE USE DURING AMNIOCENTESIS AND BIRTH-DEFECTS, Lancet, 341(8856), 1993, pp. 1352-1352
ELEVATED MATERNAL SERUM HUMAN CHORIONIC-GONADOTROPIN INCREASES THE CHANCE OF ADVERSE PREGNANCY OUTCOME
Authors: WHITEHEAD N MACMAHON W FERNHOFF PM
Citation: N. Whitehead et al., ELEVATED MATERNAL SERUM HUMAN CHORIONIC-GONADOTROPIN INCREASES THE CHANCE OF ADVERSE PREGNANCY OUTCOME, American journal of obstetrics and gynecology, 169(5), 1993, pp. 1359-1360
DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAYS OF METABOLIC ETIOLOGY
Authors: BLACKSTON RD SINGH R KRUSE B DEMBURE P FERNHOFF PM ELSAS LJ
Citation: Rd. Blackston et al., DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAYS OF METABOLIC ETIOLOGY, American journal of human genetics, 53(3), 1993, pp. 402-402
A COMMON MUTATION CAUSING THE DUARTE, GALACTOSEMIA ALLELE
Authors: ELSAS LJ DEMBURE PP BROWN AL SINGH R FERNHOFF PM LANGLEY S HJELM N GRIFFIN LD PAULK ME FRIDOVICHKEIL J
Citation: Lj. Elsas et al., A COMMON MUTATION CAUSING THE DUARTE, GALACTOSEMIA ALLELE, American journal of human genetics, 53(3), 1993, pp. 900-900
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