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La ricerca find articoli where soggetti phrase all words 'AUTOSOMAL RECESSIVE DISEASE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 38 riferimenti
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    1. Jaeken, J; Matthijs, G
      Congenital disorders of glycosylation

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    2. Fonck, C; Chauveau, D; Gagnadoux, MF; Pirson, Y; Grunfeld, JP
      Autosomal recessive polycystic kidney disease in adulthood

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    3. Shoffner, JM
      An introduction: Oxidative phosphorylation diseases

      SEMINARS IN NEUROLOGY
    4. Huynh, DP; Dy, M; Nguyen, D; Kiehl, TR; Pulst, SM
      Differential expression and tissue distribution of parkin isoforms during mouse development

      DEVELOPMENTAL BRAIN RESEARCH
    5. Tsimaratos, M; Cloarec, S; Roquelaure, B; Retornaz, K; Picon, G; Chabrol, B; Guys, JM; Sarles, J; Nivet, H
      Chronic renal failure and portal hypertension - is portosystemic shunt indicated?

      PEDIATRIC NEPHROLOGY
    6. Alvarez, V; Malaga, S; Navarro, M; Espinosa, L; Hidalgo, E; Badia, J; Alvarez, R; Coto, E
      Analysis of chromosome 6p in Spanish families with recessive polycystic kidney disease

      PEDIATRIC NEPHROLOGY
    7. Gupta, GK; Milner, L; Linshaw, MK; McCauley, RG; Connors, S; Folkman, J; Bianchi, DW
      Urinary basic fibroblast growth factor: A noninvasive marker of progressive cystic renal disease in a child

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Tanner, GA; Vijayalakshmi, K; Tanner, JA
      Effects of potassium citrate/citric acid intake in a mouse model of polycystic kidney disease

      NEPHRON
    9. Neumann, HPH
      The spectrum of renal cysts in adulthood - discussion of eight cases

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    10. Neumann, HPH; Krumme, B; van Velthoven, V; Orszagh, M; Zerres, K
      Multiple intracranial aneurysms in a patient with autosomal recessive polycystic kidney disease

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    11. Kashtan, CE; Primack, WA; Kainer, G; Rosenberg, AR; McDonald, RA; Warady, BA
      Recurrent bacteremia with enteric pathogens in recessive polycystic kidneydisease

      PEDIATRIC NEPHROLOGY
    12. Schachter, H; Jaeken, J
      Carbohydrate-deficient glycoprotein syndrome type II

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    13. Kern, S; Zimmerhackl, LB; Hildebrandt, F; Uhl, M
      RARE-MR-urography - A new diagnostic method in autosomal recessive polycystic kidney disease

      ACTA RADIOLOGICA
    14. Bates, CM; Baum, M; Hunchik, H; Quan, A
      Acute vision loss in children with autosomal recessive polycystic kidney disease

      AMERICAN JOURNAL OF KIDNEY DISEASES
    15. Sweeney, WE; Futey, L; Frost, P; Avner, ED
      In vitro modulation of cyst formation by a novel tyrosine kinase inhibitor

      KIDNEY INTERNATIONAL
    16. ZERRES K; RUDNIKSCHONEBORN S; STEINKAMM C; BECKER J; MUCHER G
      AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE

      Journal of molecular medicine
    17. Murcia, NS; Woychik, RP; Avner, ED
      The molecular biology of polycystic kidney disease

      PEDIATRIC NEPHROLOGY
    18. GUAYWOODFORD LM; GALLIANI CA; MUSULMANMROCZEK E; SPEAR GS; GUILLOT AP; BERNSTEIN J
      DIFFUSE RENAL CYSTIC-DISEASE IN CHILDREN - MORPHOLOGIC AND GENETIC CORRELATIONS

      Pediatric nephrology
    19. ZERRES K; MUCHER G; BECKER J; STEINKAMM C; RUDNIKSCHONEBORN S; HEIKKILA P; RAPOLA J; SALONEN R; GERMINO GG; ONUCHIC L; SOMLO S; AVNER ED; HARMAN LA; STOCKWIN JM; GUAYWOODFORD LM
      PRENATAL-DIAGNOSIS OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD) - MOLECULAR-GENETICS, CLINICAL-EXPERIENCE, AND FETAL MORPHOLOGY

      American journal of medical genetics
    20. JAIN S; PADMA MV; PURI A; MAHESHWARI MC
      JUVENILE MYOCLONIC EPILEPSY - DISEASE EXPRESSION AMONG INDIAN FAMILIES

      Acta neurologica Scandinavica
    21. BANYAI S; FALGER J; HAAGWEBER M; HORL WH
      MINIMAL-CHANGE GLOMERULONEPHRITIS ASSOCIATED WITH INFANTILE AUTOSOMALRECESSIVE POLYCYSTIC KIDNEY-DISEASE

      Nephrology, dialysis, transplantation
    22. DAIKHADAHMANE F; NARCY F; DOMMERGUES M; LACOSTE M; BEZIAU A; GUBLER MC
      DISTRIBUTION OF ALPHA-INTEGRIN SUBUNITS IN FETAL POLYCYSTIC KIDNEY-DISEASES

      Pediatric nephrology
    23. GAGNADOUX MF
      DIAGNOSIS AND PROGNOSIS OF POLYCYSTIC KID NEY-DISEASE DETECTED DURINGTHE FIRST YEAR OF LIFE

      Annales de pediatrie
    24. FRENK E; GUGGISBERG D; MEVORAH B; HOHL D
      MELEDA DISEASE - REPORT OF 2 CASES INVESTIGATED BY ELECTRON-MICROSCOPY

      Dermatology
    25. ZERRES K; RUDNIKSCHONEBORN S; STEINKAMM C; MUCHER G
      AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE

      Nephrology, dialysis, transplantation
    26. JAIN S; DIXIT SN; ANDREWS PI; RADTKE R; MAHESHWARI MC; MCNAMARA JO
      DISEASE EXPRESSION AMONG PROBANDS WITH JUVENILE MYOCLONIC EPILEPSY AND THEIR FAMILY MEMBERS IN 2 POPULATION GROUPS

      Journal of epilepsy
    27. ZERRES K; RUDNIKSCHONEBORN S; DEGET F; HOLTKAMP U; BRODEHL J; GEISERT J; SCHARER K; RUDER H; RASCHER W; DIPPEL J; HUFSCHMIDT C; MULLERWIEFEL DE; KONRAD M; KAARIAINEN H; MISSELWITZ J; VOLPEL S; MICHALK D; EIFE R; KUWERTZBROCKING E; VONMUHLENDAHL KE
      AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE IN 115 CHILDREN - CLINICAL PRESENTATION, COURSE AND INFLUENCE OF GENDER

      Acta paediatrica
    28. TURCO AE; PADOVANI EM; PEISSEL B; CHIAFFONI GP; ROSSETTI S; GAMMARO L; MASCHIO G; PIGNATTI PF
      GENE LINKAGE ANALYSIS AND DNA-BASED DETECTION OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN A NEWBORN-INFANT - CASE-REPORT

      Journal of perinatal medicine
    29. WISSER J; HEBISCH G; FROSTER U; ZERRES K; STALLMACH T; LEUMANN E; SCHINZEL A; HUCH A
      PRENATAL SONOGRAPHIC DIAGNOSIS OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD) DURING THE EARLY 2ND-TRIMESTER

      Prenatal diagnosis
    30. DAIKHADAHMANE F; DOMMERGUES M; NARCY F; LACOSTE M; GUBLER MC
      DISTRIBUTION AND ONTOGENY OF TENASCIN IN NORMAL AND CYSTIC HUMAN FETAL KIDNEYS

      Laboratory investigation
    31. DEGET F; RUDNIKSCHONEBORN S; ZERRES K
      COURSE OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD) IN SIBLINGS - A CLINICAL COMPARISON OF 20 SIBSHIPS

      Clinical genetics
    32. FURUOKA H; DOI T; NAKAMURA N; INADA I; OSAME S; MATSUI T
      HEREDITARY MYOPATHY OF THE DIAPHRAGMATIC MUSCLES IN HOLSTEIN-FRIESIANCATTLE

      Acta Neuropathologica
    33. TRAYSTMAN MD; SCHULTE NA; MACDONALD M; ANDERSON JR; SANGER WG
      MUTATION ANALYSIS FOR CYSTIC-FIBROSIS TO DETERMINE CARRIER STATUS IN 167 SPERM DONORS FROM THE NEBRASKA GENETIC SEMEN BANK

      Human mutation
    34. OGBORN MR
      POLYCYSTIC KIDNEY-DISEASE - A TRULY PEDIATRIC PROBLEM

      Pediatric nephrology
    35. COLE BR
      DOES LIVER-BIOPSY PROVIDE SUFFICIENT DIAGNOSTIC INFORMATION TO DIFFERENTIATE AUTOSOMAL RECESSIVE FRONT AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

      Pediatric nephrology
    36. BADINANDHUBERT N; ISNARD H; BERGER C; REVOL M
      GENERALIZED IDIOPATHIC EPILEPSIES IN ADOL ESCENTS

      Archives de pediatrie
    37. BRUN P; MENSIRE A; MACHER MA; LOIRAT C
      POLYCYSTIC KIDNEY-DISEASE IN PEDIATRIC-PA TIENTS

      Annales de pediatrie
    38. PANAYIOTOPOULOS CP; OBEID T; TAHAN AR
      JUVENILE MYOCLONIC EPILEPSY - A 5-YEAR PROSPECTIVE-STUDY

      Epilepsia


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/08/20 alle ore 18:52:03