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    1. Rasmussen, SA; Fernhoff, PM; Scanlon, KS
      Vitamin B-12 deficiency in children and adolescents

      JOURNAL OF PEDIATRICS
    2. Wang, SS; Fernhoff, PM; Khoury, MJ
      Is the G985A allelic variant of medium-chain acyl-CoA dehydrogenase a riskfactor for sudden infant death syndrome? A pooled analysis

      PEDIATRICS
    3. Pass, KA; Lane, PA; Fernhoff, PM; Hinton, CF; Panny, SR; Parks, JS; Pelias, MZ; Rhead, WJ; Ross, SI; Wethers, DL; Elsas, LJ
      US Newborn Screening System Guidelines II: Follow-up of children, diagnosis, management, and evaluation - Statement of the Council of Regional Networks for Genetic Services (CORN)

      JOURNAL OF PEDIATRICS
    4. Fernhoff, PM
      The 22q11.2 deletion syndrome: More answers but more questions

      JOURNAL OF PEDIATRICS
    5. Wang, SS; Fernhoff, PM; Hannon, WH; Khoury, MJ
      Medium chain acyl-CoA dehydrogenase deficiency: Human genome epidemiology review

      GENETICS IN MEDICINE
    6. Scaglia, F; Wang, YH; Singh, RH; Dembure, PP; Pasquali, M; Fernhoff, PM; Longo, N
      Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

      GENETICS IN MEDICINE
    7. LARRALDE M; GARDNER SS; TORRADO MD; FERNHOFF PM; MUNOZ AES; SPRAKER MK; SYBERT VP
      LYMPHEDEMA AS A POSTULATED CAUSE OF CUTIS-VERTICIS-GYRATA IN TURNER-SYNDROME

      Pediatric dermatology
    8. ROBERTS HE; MOORE CA; FERNHOFF PM; BROWN AL; KHOURY MJ
      POPULATION STUDY OF CONGENITAL HYPOTHYROIDISM AND ASSOCIATED BIRTH-DEFECTS, ATLANTA, 1979-1992

      American journal of medical genetics
    9. SCAGLIA F; WANG Y; SINGH RH; DEMBURE PP; PASQUALI M; EVINGER JD; BAGNASCO S; FERNHOFF PM; LONGO N
      FUNCTIONAL-CHARACTERIZATION OF THE CARNITINE TRANSPORTER DEFECTIVE INPRIMARY CARNITINE DEFICIENCY

      American journal of human genetics
    10. FERNHOFF PM
      ABSTRACTS FOR THE 9TH ANNUAL SCIENTIFIC CONFERENCE OF THE PRADER-WILLI-SYNDROME (PWS) ASSOCIATION - INTRODUCTION

      American journal of medical genetics
    11. ROBERTS HE; SAXE DF; MURALIDHARAN K; COLEMAN KB; ZACHARIAS JF; FERNHOFF PM
      UNIQUE MOSAICISM OF TETRAPLOIDY AND TRISOMY-8 - CLINICAL, CYTOGENETIC, AND MOLECULAR FINDINGS IN A LIVE-BORN INFANT

      American journal of medical genetics
    12. YANG LLH; LAMBERT SR; FERNHOFF PM; STULTING RD
      PETERS ANOMALY - ASSOCIATED CONGENITAL-MALFORMATIONS AND ETIOLOGY

      Investigative ophthalmology & visual science
    13. ROBERTS HE; MOORE CA; CRAGAN JD; FERNHOFF PM; KHOURY MJ
      IMPACT OF PRENATAL-DIAGNOSIS ON THE BIRTH PREVALENCE OF NEURAL-TUBE DEFECTS, ATLANTA, 1990-1991

      Pediatrics
    14. ROBERTS HE; SAXE DE; MURALIDHARAN K; COLEMAN KB; ZACHARIAS JF; FERNHOFF PM
      A UNIQUE MOSAICISM OF TETRAPLOIDY AND TRISOMY-8 - CLINICAL, CYTOGENETIC AND MOLECULAR FINDINGS IN A LIVE-BORN INFANT

      American journal of human genetics
    15. WELLS JA; ELLERINE NP; FERNHOFF PM; WARING GO
      CORNEAL OPACITIES IN SPONDYLOEPIPHYSEAL DYSPLASIA TARDA

      Cornea
    16. ELSAS LJ; LANGLEY SD; PAULK EM; FERNHOFF PM; DEMBURE PP
      A MOLECULAR APPROACH TO GALACTOSEMIA

      Pediatric research
    17. CRAGAN JD; MARTIN ML; KHOURY MJ; FERNHOFF PM
      DYE USE DURING AMNIOCENTESIS AND BIRTH-DEFECTS

      Lancet
    18. WHITEHEAD N; MACMAHON W; FERNHOFF PM
      ELEVATED MATERNAL SERUM HUMAN CHORIONIC-GONADOTROPIN INCREASES THE CHANCE OF ADVERSE PREGNANCY OUTCOME

      American journal of obstetrics and gynecology
    19. BLACKSTON RD; SINGH R; KRUSE B; DEMBURE P; FERNHOFF PM; ELSAS LJ
      DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAYS OF METABOLIC ETIOLOGY

      American journal of human genetics
    20. ELSAS LJ; DEMBURE PP; BROWN AL; SINGH R; FERNHOFF PM; LANGLEY S; HJELM N; GRIFFIN LD; PAULK ME; FRIDOVICHKEIL J
      A COMMON MUTATION CAUSING THE DUARTE, GALACTOSEMIA ALLELE

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/01/21 alle ore 07:18:04