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La ricerca find articoli where soggetti phrase all words 'ALAGILLE-SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 102 riferimenti
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    1. Deutsch, GH; Sokol, RJ; Stathos, TH; Knisely, AS
      Proliferation to paucity: Evolution of bile duct abnormalities in a case of Alagille syndrome

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    2. Spinner, NB; Colliton, RP; Crosnier, C; Krantz, ID; Hadchouel, M; Meunier-Rotival, M
      Jagged1 mutations in Alagille syndrome

      HUMAN MUTATION
    3. Goodarzi, G; Mashimo, T; Watabe, M; Cuthbert, AP; Newbold, RF; Pai, SK; Hirota, S; Hosobe, S; Miura, K; Bandyopadhyay, S; Gross, SC; Balaji, KC; Watabe, K
      Identification of tumor metastasis suppressor region on the short arm of human chromosome 20

      GENES CHROMOSOMES & CANCER
    4. Giannakudis, J; Ropke, A; Kujat, A; Krajewska-Walasek, M; Hughes, H; Fryns, JP; Bankier, A; Amor, D; Schlicker, M; Hansmann, I
      Parental mosaicism of JAG1 mutations in families with Alagille syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    5. Eldadah, ZA; Hamosh, A; Biery, NJ; Montgomery, RA; Duke, M; Elkins, R; Dietz, HC
      Familial Tetralogy of Fallot caused bg mutation in the jagged1 gene (vol 10, pg 163, 2001)

      HUMAN MOLECULAR GENETICS
    6. Eldadah, ZA; Hamosh, A; Biery, NJ; Montgomery, RA; Duke, M; Elkins, R; Dietz, HC
      Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

      HUMAN MOLECULAR GENETICS
    7. McCright, B; Gao, X; Shen, LY; Lozier, J; Lan, Y; Maguire, M; Herzlinger, D; Weinmaster, G; Jiang, RL; Gridley, T
      Defects in development of the kidney, heart and eye vasculature in mice homozygous for a hypomorphic Notch2 mutation

      DEVELOPMENT
    8. Piccoli, DA; Spinner, NB
      Alagille syndrome and the Jagged1 gene

      SEMINARS IN LIVER DISEASE
    9. Nijjar, SS; Crosby, HA; Wallace, L; Hubscher, SG; Strain, AJ
      Notch receptor expression in adult human liver: A possible role in bile duct formation and hepatic neovascularization

      HEPATOLOGY
    10. Gelb, BD
      Genetic basis of syndromes associated with congenital heart disease

      CURRENT OPINION IN CARDIOLOGY
    11. Stankiewicz, P; Rujner, J; Loffler, C; Kruger, A; Nimmakayalu, M; Pilacik, B; Krajewska-Walasek, M; Gutkowska, A; Hansmann, I; Giannakudis, I
      Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene

      AMERICAN JOURNAL OF MEDICAL GENETICS
    12. Kiernan, AE; Ahituv, N; Fuchs, H; Balling, R; Avraham, KB; Steel, KP; de Angelis, MH
      The Notch ligand Jagged1 is required for inner ear sensory development

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    13. Haberal, M; Arda, IS; Karakayali, H; Emiroglu, R; Bilgin, N; Arslan, G; Coskun, M; Boyacioglu, S
      Successful heterotopic segmental liver transplantation from a live donor to a patient with Alagille syndrome

      JOURNAL OF PEDIATRIC SURGERY
    14. Lykavieris, P; Hadchouel, M; Chardot, C; Bernard, O
      Outcome of liver disease in children with Alagille syndrome: a study of 163 patients

      GUT
    15. Yuan, ZR; Okaniwa, M; Nagata, I; Tazawa, Y; Ito, M; Kawarazaki, H; Inomata, Y; Okano, S; Yoshida, T; Kobayashi, N; Kohsaka, T
      The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome

      CLINICAL GENETICS
    16. Lindner, V; Booth, C; Prudovsky, I; Small, D; Maciag, T; Liaw, L
      Members of the Jagged/Notch gene families are expressed in injured arteries and regulate cell phenotype via alterations in cell matrix and cell-cell interaction

      AMERICAN JOURNAL OF PATHOLOGY
    17. Colombo, C; Okolicsanyi, L; Strazzabosco, M
      Advances in familial and congenital cholestatic diseases. Clinical and diagnostic implications

      DIGESTIVE AND LIVER DISEASE
    18. Gelb, BD
      Recent advances in the understanding of genetic causes of congenital heartdefects

      FRONTIERS IN BIOSCIENCE
    19. Bulman, MP; Kusumi, K; Frayling, TM; McKeown, C; Garrett, C; Lander, ES; Krumlauf, R; Hattersley, AT; Ellard, S; Turnpenny, PD
      Mutations in the human Delta homologue, DLL3, cause axial skeletal defectsin spondylocostal dysostosis

      NATURE GENETICS
    20. Heritage, ML; MacMillan, JC; Colliton, RP; Genin, A; Spinner, NB; Anderson, GJ
      Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population

      HUMAN MUTATION
    21. Rones, MS; McLaughlin, KA; Raffin, M; Mercola, M
      Serrate and Notch specify cell fates in the heart field by suppressing cardiomyogenesis

      DEVELOPMENT
    22. Alizad, A; Seward, JB
      Echocardiographic features of genetic diseases: Part 7. Complex genetic disorders

      JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY
    23. Shutter, JR; Scully, S; Fan, W; Richards, WG; Kitajewski, J; Deblandre, GA; Kintner, CR; Stark, KL
      Dll4, a novel Notch ligand expressed in arterial endothelium

      GENES & DEVELOPMENT
    24. Robertson, NG; Heller, S; Lin, JS; Resendes, BL; Weremowicz, S; Denis, CS; Bell, AM; Hudspeth, AJ; Morton, CC
      A novel conserved cochlear gene, OTOR: Identification, expression analysis, and chromosomal mapping

      GENOMICS
    25. Rebhandl, W; Felberbauer, FX; Huber, WD; Puig, S; Paya, K; Rauhofer, U; Saadi, S; Aberle, J; Horcher, E
      Progressive familial intrahepatic cholestasis (Byler disease): Current genetics and therapy

      KLINISCHE PADIATRIE
    26. Drouin, E; Russo, P; Tuchweber, B; Mitchell, G; Rasquin-Weber, A
      North American Indian cirrhosis in children: A review of 30 cases

      JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
    27. Ng, VL; Ryckman, FC; Porta, G; Miura, IK; de Carvalho, E; Servidoni, MF; Bezerra, JA; Balistreri, WF
      Long-term outcome after partial external biliary diversion for intractablepruritus in patients with intrahepatic cholestasis

      JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
    28. Thompson, R
      Pediatric liver disease

      CURRENT OPINION IN GASTROENTEROLOGY
    29. Hadchouel, M
      Notch signalling pathway and human diseases

      JOURNAL OF HEPATOLOGY
    30. Towbin, JA; Belmont, J
      Molecular determinants of left and right outflow tract obstruction

      AMERICAN JOURNAL OF MEDICAL GENETICS
    31. Quek, SC; Tan, L; Quek, ST; Yip, W; Aw, M; Quak, SH
      Abdominal coarctation and Alagille syndrome

      PEDIATRICS
    32. Jones, EA; Clement-Jones, M; Wilson, DI
      JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype

      JOURNAL OF MEDICAL GENETICS
    33. Spinner, NB
      CADASIL: Notch signaling defect or protein accumulation problem?

      JOURNAL OF CLINICAL INVESTIGATION
    34. Gelb, BD
      Recent advances in the understanding of genetic causes of congenital heartdefects

      PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE
    35. Onouchi, Y; Kurahashi, H; Tajiri, H; Ida, S; Okada, S; Nakamura, Y
      Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome

      JOURNAL OF HUMAN GENETICS
    36. Pilia, G; Uda, M; Macis, D; Frau, F; Crisponi, L; Balli, F; Barbera, C; Colombo, C; Frediani, T; Gatti, R; Iorio, R; Marazzi, MG; Marcellini, M; Musumeci, S; Nebbia, G; Vajro, P; Ruffa, G; Zancan, L; Cao, A; DeVirgilis, S
      Jagged-1 mutation analysis in Italian Alagille syndrome patients

      HUMAN MUTATION
    37. Hardikar, W
      Genes for jaundice

      JOURNAL OF PAEDIATRICS AND CHILD HEALTH
    38. Xue, YZ; Gao, X; Lindsell, CE; Norton, CR; Chang, B; Hicks, C; Gendron-Maguire, M; Rand, EB; Weinmaster, G; Gridley, T
      Embryonic lethality and vascular defects in mice lacking the Notch ligand JAGGED1

      HUMAN MOLECULAR GENETICS
    39. Bahar, RJ; Stolz, A
      Bile acid transport

      GASTROENTEROLOGY CLINICS OF NORTH AMERICA
    40. Labrune, P; Myara, A; Imbert-Bismut, F; Gerhardt, MF
      Pediatric liver diseases.

      PATHOLOGIE BIOLOGIE
    41. Yerushalmi, B; Sokol, RJ; Narkewicz, MR; Smith, D; Karrer, FM
      Use of rifampin for severe pruritus in children with chronic cholestasis

      JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
    42. Duche, M; Habes, D; Lababidi, A; Chardot, C; Wenz, J; Bernard, O
      Percutaneous endoscopic gastrostomy for continuous feeding in children with chronic cholestasis

      JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
    43. Shneider, BL
      Genetic cholestasis syndromes

      JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
    44. Louis, AA; Van Eyken, P; Haber, BA; Hicks, C; Weinmaster, G; Taub, R; Rand, EB
      Hepatic Jagged1 expression studies

      HEPATOLOGY
    45. Moreau, S; Bourdon, N; Jokic, M; de Rugy, MG; Babin, E; Valdazo, A; Courtheoux, P
      Alagille syndrome with cavernous carotid artery aneurysm

      INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
    46. Janas, RM; Socha, J; Warnawin, K; Rujner, J
      Further studies on aminopeptidase-M in blood in children with cholestatic liver diseases and viral hepatitis

      DIGESTIVE DISEASES AND SCIENCES
    47. Cribier, B
      Adnexal tumors and associated diseases. Part I: Follicular tumors

      ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE
    48. Okajima, K; Robinson, LK; Hart, MA; Abuelo, DN; Cowan, LS; Hasegawa, T; Maumenee, IH; Jabs, EW
      Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    49. Krantz, ID; Smith, R; Colliton, RP; Tinkel, H; Zackai, EH; Piccoli, DA; Goldmuntz, E; Spinner, NB
      Jagged1 mutations in patients ascertained with isolated congenital heart defects

      AMERICAN JOURNAL OF MEDICAL GENETICS
    50. McDiarmid, SV; Gornbein, JA; DeSilva, PJ; Goss, JA; Vargas, JH; Martin, MG; Ament, ME; Busuttil, RW
      Factors affecting growth after pediatric liver transplantation

      TRANSPLANTATION
    51. Gurkan, A; Emre, S; Fishbein, TM; Brady, L; Millis, M; Birnbaum, A; Kim-Schluger, L; Sheiner, PA
      Unsuspected bile duct paucity in donors for living-related liver transplantation: Two case reports

      TRANSPLANTATION
    52. Mitsiadis, TA; Fried, K; Goridis, C
      Reactivation of Delta-Notch signaling after injury: Complementary expression patterns of ligand and receptor in dental pulp

      EXPERIMENTAL CELL RESEARCH
    53. Adachi, T; Murakawa, M; Uetsuki, N; Segawa, H
      Living related donor liver transplantation in a patient with severe aorticstenosis

      BRITISH JOURNAL OF ANAESTHESIA
    54. Gray, GE; Mann, RS; Mitsiadis, E; Henrique, D; Carcangiu, ML; Banks, A; Leiman, J; Ward, D; Ish-Horowitz, D; Artavanis-Tsakonas, S
      Human ligands of the Notch receptor

      AMERICAN JOURNAL OF PATHOLOGY
    55. Towbin, JA; Casey, B; Belmont, J
      The molecular basis of vascular disorders

      AMERICAN JOURNAL OF HUMAN GENETICS
    56. Bernard, O
      Cholestatic childhood liver diseases

      ACTA GASTRO-ENTEROLOGICA BELGICA
    57. Joutel, A; Tournier-Lasserve, E
      Notch signalling pathway and human diseases

      SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
    58. LANGLEY R; LEUNG E; MORRIS C; BERG R; MCDONALD M; WEAVER A; PARRY DAD; NI J; SU J; GENTZ R; SPURR N; KRISSANSEN GW
      IDENTIFICATION OF MULTIPLE FORMS OF 180-KDA RIBOSOME RECEPTOR IN HUMAN-CELLS

      DNA and cell biology
    59. MACMILLAN JC; SHEPHERD R; HERITAGE M
      ARTERIOHEPATIC DYSPLASIA (ALAGILLE-SYNDROME, WATSON-ALAGILLE-SYNDROME)

      Bailliere's clinical gastroenterology
    60. SCHONCK M; HOORNTJE S; VANHOOFF J
      RENAL-TRANSPLANTATION IN ALAGILLE-SYNDROME

      Nephrology, dialysis, transplantation
    61. BERARD E; SARLES J; TRIOLO V; GAGNADOUX MF; WERNERT F; HADCHOUEL M; NIAUDET P
      RENOVASCULAR HYPERTENSION AND VASCULAR ANOMALIES IN ALAGILLE-SYNDROME

      Pediatric nephrology
    62. SAIDI AS; KOVALCHIN JP; FISHER DJ; FERRY GD; GRIFKA RG
      BALLOON PULMONARY VALVULOPLASTY AND STENT IMPLANTATION FOR PERIPHERALPULMONARY-ARTERY STENOSIS IN ALAGILLE-SYNDROME

      Texas Heart Institute journal
    63. MAGHNIE M; BARRECA A; VENTURA M; TINELLI C; PONZANI P; DEGIACOMO C; MAGGIORE G; SEVERI F
      FAILURE TO INCREASE INSULIN-LIKE GROWTH-FACTOR-I SYNTHESIS IS INVOLVED IN THE MECHANISMS OF GROWTH-RETARDATION OF CHILDREN WITH INHERITED LIVER DISORDERS

      Clinical endocrinology
    64. Birnbaum, A; Suchy, FJ
      The intrahepatic cholangiopathies

      SEMINARS IN LIVER DISEASE
    65. Alonso, MH; Ryckman, FC
      Current concepts in pediatric liver transplant

      SEMINARS IN LIVER DISEASE
    66. MOSELEY RH
      BILIARY-TRACT

      Current opinion in gastroenterology
    67. GROH MJM; WENKEL H; MAYER UM
      ALAGILLE-SYNDROME (ARTERIOHEPATIC DYSPLAS IA) - FOLLOW-UP OF 23 YEARSOF STABLE OCULAR FINDINGS

      Klinische Monatsblatter fur Augenheilkunde
    68. YOU TT; YOUNG LHY
      RETINAL MANIFESTATIONS OF GASTROINTESTINAL CONDITIONS

      International ophthalmology clinics
    69. JAY P; SAHLY I; GOZE C; TAVIAUX S; POULAT F; COULY G; ABITBOL M; BERTA P
      SOX22 IS A NEW MEMBER OF THE SOX GENE FAMILY, MAINLY EXPRESSED IN HUMAN NERVOUS-TISSUE

      Human molecular genetics
    70. MINCHEVA A; LICHTER P; SCHUTZ G; KAESTNER KH
      ASSIGNMENT OF THE HUMAN GENES FOR HEPATOCYTE NUCLEAR FACTOR 3-ALPHA, 3-BETA, AND 3-GAMMA (HNF3A, HNF3B, HNF3G) TO 14Q12-Q13, 20P11, AND 19Q13.2-Q13.4

      Genomics
    71. YUAN ZR; KOHSAKA T; KOBAYASHI N
      LINKAGE ANALYSIS AND IDENTIFICATION OF DELETION IN ALAGILLE-SYNDROME GENE

      Acta Paediatrica Japonica Overseas Edition
    72. SHEFLER AG; CHAN MKH; OSTMANSMITH I
      MIDDLE AORTIC SYNDROME IN A BOY WITH ARTERIOHEPATIC DYSPLASIA (ALAGILLE-SYNDROME)

      Pediatric cardiology
    73. MICHAELIS RC; SKINNER SA; DEASON R; SKINNER C; MOORE CL; PHELAN MC
      INTERSITIAL DELETION OF 20P - NEW CANDIDATE REGION FOR HIRSCHSPRUNG-DISEASE AND AUTISM

      American journal of medical genetics
    74. KRANTZ ID; RAND EB; GENIN A; HUNT P; JONES M; LOUIS AA; GRAHAM JM; BHATT S; PICCOLI DA; SPINNER NB
      DELETIONS OF 20P12 IN ALAGILLE-SYNDROME - FREQUENCY AND MOLECULAR CHARACTERIZATION

      American journal of medical genetics
    75. GAUDERER MWL; BOYLE JT
      CHOLECYSTOAPPENDICOSTOMY IN A CHILD WITH ALAGILLE SYNDROME

      Journal of pediatric surgery
    76. KRANTZ ID; PICCOLI DA; SPINNER NB
      ALAGILLE SYNDROME

      Journal of Medical Genetics
    77. PIERPONT MEM
      GENETIC ETIOLOGY OF CARDIAC SYNDROMES

      Progress in pediatric cardiology
    78. MOOG U; ENGELEN J; ALBRECHTS J; HOORNTJE T; HENDRIKSE F; SCHRANDERSTUMPEL C
      ALAGILLE SYNDROME IN A FAMILY WITH DUPLICATION 20P11

      Clinical dysmorphology
    79. BASSON CT; MACRAE CA; SCHOENBERGFEJZO M; MORTON CC; SPINNER NB; GENIN A; KRUG E; SEIDMAN JG; SEIDMAN CE
      IDENTIFICATION, CHARACTERIZATION, AND CHROMOSOMAL LOCALIZATION OF THEHUMAN HOMOLOG (HES) OF ES 130/

      Genomics
    80. CHIU HH; CHANG MH; CHEN CL; HSU HY; NI YH
      CASE-REPORT - PAUCITY OF INTERLOBULAR BILE-DUCTS IN CHINESE CHILDREN

      Journal of gastroenterology and hepatology
    81. DEVRIENDT K; DOOMS L; PROESMANS W; DEZEGHER F; DESMET V; EGGERMONT E
      PAUCITY OF INTRAHEPATIC BILE-DUCTS, SOLITARY KIDNEY AND ATROPHIC PANCREAS WITH DIABETES-MELLITUS - ATYPICAL ALAGILLE SYNDROME

      European journal of pediatrics
    82. WIECHMANN DA; HEUBI JE
      PEDIATRIC HEPATOBILIARY DISEASE

      Current opinion in gastroenterology
    83. TORIZUKA T; TAMAKI N; FUJITA T; YONEKURA Y; UEMOTO S; TANAKA K; YAMAOKA Y; KONISHI J
      FOCAL LIVER HYPERPLASIA IN ALAGILLE-SYNDROME - ASSESSMENT WITH HEPATORECEPTOR AND HEPATOBILIARY IMAGING

      The Journal of nuclear medicine
    84. LI PH; SHU SG; YANG CH; LO FC; WEN MC; CHI CS
      ALAGILLE SYNDROME WITH INTERSTITIAL 20P DELETION DERIVED FROM MATERNAL INS(7-20)

      American journal of medical genetics
    85. PLACUCCI F; VINCENZI C; GHEDINI G; PIANA G; TOSTI A
      COEXISTENCE OF TYPE-I AND TYPE-IV ALLERGY TO RUBBER LATEX

      Contact dermatitis
    86. WHITINGTON PF
      CHRONIC CHOLESTASIS OF INFANCY

      The Pediatric clinics of North America
    87. MCEVOY CF; SUCHY FJ
      BILIARY-TRACT DISEASE IN CHILDREN

      The Pediatric clinics of North America
    88. BRUGUERA M
      DISTAL INTRAHEPATIC BILIARY-TRACT DISEASE S IN ADULTS - CHOLANGITIS AND LOSS OF DUCTS

      Medicina Clinica
    89. KAY MH; WYLLIE R; STEFFEN RM
      USE OF URSODEOXYCHOLIC ACID IN THE TREATMENT OF ARTERIOHEPATIC DYSPLASIA

      Clinical pediatrics
    90. LEONARD NJ; DIAS V; PARSONS HG
      ALAGILLE SYNDROME - RESOLUTION OF XANTHOMAS

      Canadian journal of gastroenterology
    91. DELEUZE JF; DHORNEPOLLET S; POLLET N; MEUNIERROTIVAL M; HADCHOUEL M
      ALAGILLE-SYNDROME IN 1995 - CLINICAL AND GENETIC DATA

      Gastroenterologie clinique et biologique
    92. CHIU HH; CHANG MH; CHEN CL; HSU HY; NI YH
      THE ASSOCIATION OF SYNDROMIC PAUCITY OF THE INTERLOBULAR BILE-DUCTS AND CONGENITAL MECHANICAL OBSTRUCTION OF THE SMALL-INTESTINE

      Journal of pediatric gastroenterology and nutrition
    93. DAGATA IDA; JONAS MM
      SHEDDING LIGHT INTO THE BLACK-BOX OF CHILDHOOD CHOLESTATIC LIVER-DISEASE

      Hepatology
    94. HADCHOUEL M; FABRE M
      DIAGNOSIS OF NEONATAL CHOLESTASIS

      Annales de pathologie
    95. GOTTRAND F; CLAVEY V; FRUCHART JC; FARRIAUX JP
      LIPOPROTEIN PATTERN AND PLASMA LECITHIN-CHOLESTEROL ACYL TRANSFERASE-ACTIVITY IN CHILDREN WITH ALAGILLE SYNDROME

      Atherosclerosis
    96. ROVET J; KREKEWICH K; PERLMAN K; WEKSBERG R; HOLLAND J; FEIGENBAUM A
      SAVANT CHARACTERISTICS IN A CHILD WITH DEVELOPMENTAL DELAY AND DELETION IN THE SHORT ARM CHROMOSOME-20

      Developmental Medicine and Child Neurology
    97. KATO Z; ASANO J; KATO T; YAMAGUCHI S; KONDO N; ORII T
      THYROID-CANCER IN A CASE WITH THE ALAGILLE SYNDROME

      Clinical genetics
    98. SHETH AP; ESTERLY NB; RABINOWITZ LG; POHFITZPATRICK MB
      CUTANEOUS PORPHYRIALIKE PHOTOSENSITIVITY AFTER LIVER-TRANSPLANTATION

      Archives of dermatology
    99. SILBERBACH M; LASHLEY D; RELLER MD; KINN WF; TERRY A; SUNDERLAND CO
      ARTERIOHEPATIC DYSPLASIA AND CARDIOVASCULAR MALFORMATIONS

      The American heart journal
    100. POTAMITIS T; FIELDER AR
      ANGLE-CLOSURE GLAUCOMA IN ALAGILLE SYNDROME - A CASE-REPORT

      Ophthalmic paediatrics and genetics


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Documento generato il 28/10/20 alle ore 05:17:42