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    1. Vanlieferinghen, P; Borderon, C; Francannet, C; Gembara, P; Dechelotte, P
      Johanson-Blizzard syndrome. A new case with autopsy findings

      GENETIC COUNSELING
    2. Lammer, EJ; Scholes, T; Abrams, L
      Autosomal recessive tetralogy of Fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome?

      CLINICAL DYSMORPHOLOGY
    3. Teebi, AS; Druker, HA
      Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?

      CLINICAL DYSMORPHOLOGY
    4. Vernay, M
      Geographical repartition of surnames and genetic structure in the French county of Ardeche at the beginning of the XXth century.

      COMPTES RENDUS DE L ACADEMIE DES SCIENCES SERIE III-SCIENCES DE LA VIE-LIFE SCIENCES
    5. Overalll, ADJ; Nichols, RA
      A method for distinguishing consanguinity and population substructure using multilocus genotype data

      MOLECULAR BIOLOGY AND EVOLUTION
    6. Guy, R; Forsyth, JM; Cooper, A; Morton, RE
      Co-existence of lysosomal storage diseases in a consanguineous family

      CHILD CARE HEALTH AND DEVELOPMENT
    7. Gueresi, P; Pettener, D; Veronesi, FM
      Marriage behaviour in the Alpine Non Valley from 1825 to 1923

      ANNALS OF HUMAN BIOLOGY
    8. Shawky, S; Milaat, W
      Cumulative impact of early maternal marital age during the childbearing period

      PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
    9. Baccetti, B; Capitani, S; Collodel, G; Di Cairano, G; Gambera, L; Moretti, E; Piomboni, P
      Genetic sperm defects and consanguinity

      HUMAN REPRODUCTION
    10. Becker, SM; Al Halees, Z; Molina, C; Paterson, RM
      Consanguinity and congenital heart disease in Saudi Arabia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    11. Avegno, J; Tilton, AH; Lacassie, Y
      Provisionally unique autosomal recessive syndrome due to significant consanguinity

      AMERICAN JOURNAL OF MEDICAL GENETICS
    12. Rittler, M; Liascovich, R; Lopez-Camelo, J; Castilla, EE
      Parental consanguinity in specific types of congenital anomalies

      AMERICAN JOURNAL OF MEDICAL GENETICS
    13. Sanchez-Sellero, C; Farina, J; Ainsua, RL; Varela, TA
      Local differences in the Archbishopric of Santiago de Compostela (Galicia,Spain) in relation to the consanguinity structure, 1900-1979

      HUMAN BIOLOGY
    14. Luna, F; Polo, V; Fernandez-Santander, A; Moral, P
      Stillbirth pattern in an isolated Mediterranean population: La Alpujarra, Spain

      HUMAN BIOLOGY
    15. Bittles, AH
      Consanguinity and its relevance to clinical genetics

      CLINICAL GENETICS
    16. Sobel, E; Sengul, H; Weeks, DE
      Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees

      HUMAN HEREDITY
    17. Jorde, LB
      Consanguinity and prereproductive mortality in the Utah Mormon population

      HUMAN HEREDITY
    18. Jaber, L; Dolfin, T; Shohat, T; Halpern, GJ; Reish, O; Fejgin, M
      Prenatal diagnosis for detecting congenital malformations: Acceptance among Israeli Arab women

      ISRAEL MEDICAL ASSOCIATION JOURNAL
    19. Murshid, WR
      Spina bifida in Saudi Arabia: Is consanguinity among the parents a risk factor?

      PEDIATRIC NEUROSURGERY
    20. Guion-Almeida, ML; Richieri-Costa, A
      Amniotic band sequence versus the autosomal recessive microcephaly, facialclefting, and preaxial polydactyly syndrome

      CLINICAL DYSMORPHOLOGY
    21. Acosta, AX; Peres, LC; Chimelli, LC; Pina-Neto, JM
      Raine dysplasia: a Brazilian case with a mild radiological involvement

      CLINICAL DYSMORPHOLOGY
    22. Gul, D; Oktenli, C; Saglam, M; Erdem, U
      Craniofacial anomalies, ocular findings, pigmented nevi, camptodactyly, and skeletal changes: a possible new autosomal recessive disorder

      CLINICAL DYSMORPHOLOGY
    23. Lin, GT; Chen, SK; Liu, CS; Wang, WH
      Splice site mutation in the type VII collagen gene (COL7A1) in a Taiwanesefamily with recessive dystrophic epidermolysis bullosa

      JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
    24. Meillassoux, C
      Talking about kinship.

      HOMME
    25. Bassili, A; Mokhtar, SA; Dabous, NI; Zaher, SR; Mokhtar, MM; Zaki, A
      Risk factors for congenital heart diseases in Alexandria, Egypt

      EUROPEAN JOURNAL OF EPIDEMIOLOGY
    26. Khoury, SA; Massad, DF
      Consanguinity, fertility, reproductive wastage, infant mortality and congenital malformations in Jordan

      SAUDI MEDICAL JOURNAL
    27. Zlotogora, J; Shalev, S; Habiballah, H; Barjes, S
      Genetic disorders among Palestinian Arabs: 3. Autosomal recessive disorders in a single village

      AMERICAN JOURNAL OF MEDICAL GENETICS
    28. Pavone, P; Parano, E; Polizzi, A; Trifiletti, RR
      Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: Association or new syndrome?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    29. Megarbane, A; Desguerres, I; Rizkallah, E; Delague, V; Nabbout, R; Barois, A; Urtizberea, A
      Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: Confirmation of autosomal recessive inheritance?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    30. Aguila, A; Nazer, J; Cifuentes, L; Mella, P; de la Barra, P; Gutierrez, D
      Prevalence of congenital malformations at birth and associated factors in Easter Island, Chile

      REVISTA MEDICA DE CHILE
    31. Gortzak-Uzan, L; Sheiner, E; Gohar, J
      Prenatal diagnosis of congenital hypophosphatasia in a consanguineous Bedouin couple - A case report

      JOURNAL OF REPRODUCTIVE MEDICINE
    32. Bener, A; Uduman, SA; Qassimi, EMA; Khalaily, G; Sztriha, L; Kilpelainen, H; Obineche, E
      Genetic and environmental factors associated with migraine in schoolchildren

      HEADACHE
    33. Ayres, KL
      A two-locus forensic match probability for subdivided populations

      GENETICA
    34. Durkin, MS; Khan, NZ; Davidson, LL; Huq, S; Munir, S; Rasul, E; Zaman, SS
      Prenatal and postnatal risk factors for mental retardation among children in Bangladesh

      AMERICAN JOURNAL OF EPIDEMIOLOGY
    35. Liascovich, R; Rittler, M; Castilla, EE
      Consanguinity in South America: Demographic aspects

      HUMAN HEREDITY
    36. Kiper, N; Gocmen, A; Ozcelik, U; Dilber, E; Anadol, D
      Long-term clinical course of patients with idiopathic pulmonary hemosiderosis (1979-1994): Prolonged survival with low-dose corticosteroid therapy

      PEDIATRIC PULMONOLOGY
    37. Bennett, RL; Hudgins, L; Smith, CO; Motulsky, AG
      Inconsistencies in genetic counseling and screening for consanguineous couples and their offspring: The need for practice guidelines

      GENETICS IN MEDICINE
    38. Al-Gazali, LI; Bakir, M; Dawodu, A; Nath, R; Al-Tatari, HM; Gerami, M
      Recurrence of the severe form of microgastria-limb reduction defect in a consanguineous family

      CLINICAL DYSMORPHOLOGY
    39. Auslander, R; Nevo, O; Diukman, R; Morrad, E; Bardicef, M; Abramovici, H
      Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    40. Baltaci, V; Ors, R; Kaya, M; Balci, S
      A case associated with Walker Warburg syndrome phenotype and homozygous pericentric inversion 9. coincidental finding or aetiological factor?

      ACTA PAEDIATRICA
    41. Hall, SK; Hutchesson, ACJ; Kirk, JM
      Congenital hypothyroidism, seasonality and consanguinity in the West Midlands, England

      ACTA PAEDIATRICA
    42. Vezina, H; Heyer, E; Fortier, I; Ouellette, G; Robitaille, Y; Gauvreau, D
      A genealogical study of Alzheimer disease in the Saguenay region of Quebec

      GENETIC EPIDEMIOLOGY
    43. Zakzouk, SM; Daghistani, KJ; Jamal, TS; Al-Shaikh, AA; Hajjaj, MF
      A survey of childhood hearing impairment

      SAUDI MEDICAL JOURNAL
    44. Tadmouri, GO; Bissar-Tadmouri, N
      Genetic disorders in Arabs as for OMIM (TM)

      SAUDI MEDICAL JOURNAL
    45. Ezquieta, B; Oyarzabal, M; Jariego, CM; Varela, JM; Chueca, M
      A novel frameshift mutation in the first exon of the 21-OH gene found in homozygosity in an apparently nonconsanguineous family

      HORMONE RESEARCH
    46. Bacon, W; Hall, RK; Roset, JP; Boukari, A; Tenenbaum, H; Walter, B
      GAPO syndrome: a new case of this rare syndrome and a review of the relative importance of different phenotypic features in diagnosis

      JOURNAL OF CRANIOFACIAL GENETICS AND DEVELOPMENTAL BIOLOGY
    47. Radovanovic, Z; Shah, N; Behbehani, J
      Prevalence and social correlates of consanguinity in Kuwait

      ANNALS OF SAUDI MEDICINE
    48. Walter-Nicolet, E; Coeslier, A; Joriot, S; Kacet, N; Moerman, A; Manouvrier-Hanu, S
      The Richieri-Costa and Pereira form of acrofacial dysostosis: First case in a non-Brazilian infant

      AMERICAN JOURNAL OF MEDICAL GENETICS
    49. Mori, PG; Priolo, M; Lerone, M; Caroli, F; Cusano, R; Seri, M; Silengo, MC
      Congenital hypoplastic anaemia in a patient with a new multiple congenitalanomalies-mental retardation syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    50. Agarwala, R; Biesecker, LG; Tomlin, JF; Schaffer, AA
      Towards a complete North American Anabaptist genealogy: A systematic approach to merging partially overlapping genealogy resources

      AMERICAN JOURNAL OF MEDICAL GENETICS
    51. Franceschini, P; Licata, D; Di Cara, G; Guala, A; Bianchi, M; Ingrosso, G; Franceschini, D
      Bladder carcinoma in Costello syndrome: Report on a patient born to consanguineous parents and review

      AMERICAN JOURNAL OF MEDICAL GENETICS
    52. Megarbane, A; Haddad-Zebouni, S; Nabbout, R; Khoury, AH; Traboulsi, EI
      Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: A new MCA/MR syndrome?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    53. Stoltenberg, C; Magnus, P; Skrondal, A; Lie, RT
      Consanguinity and recurrence risk of birth defects: A population-based study

      AMERICAN JOURNAL OF MEDICAL GENETICS
    54. Hansen, RS; Wijmenga, C; Luo, P; Stanek, AM; Canfield, TK; Weemaes, CMR; Gartler, SM
      The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    55. Megarbane, A; Choueiri, R; Bleik, J; Mezzina, M; Caillaud, C
      Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?

      JOURNAL OF MEDICAL GENETICS
    56. Al-Gazali, LI; Sztriha, L; Dawodu, A; Varady, E; Bakir, M; Khdir, A; Johansen, J
      Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes

      JOURNAL OF MEDICAL GENETICS
    57. Hussain, R; Bittles, AH
      Consanguineous marriage and differentials in age at marriage, contraceptive use and fertility in Pakistan

      JOURNAL OF BIOSOCIAL SCIENCE
    58. Sheiner, E; Shoham-Vardi, I; Sheiner, EK; Mazor, M; Katz, M; Carmi, R
      Maternal factors associated with severity of birth defects

      INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
    59. Beekman, M; van Stratum, P; Veerman, A
      Selection for non-diapause in the bumblebee Bombus terrestris, with notes on the effect of inbreeding

      ENTOMOLOGIA EXPERIMENTALIS ET APPLICATA
    60. Vanita; Singh, JR; Singh, D
      Genetic and segregation analysis of congenital cataract in the Indian population

      CLINICAL GENETICS
    61. Al-Gazali, L; Sztriha, L; Dawodu, A; Bakir, M; Varghese, M; Varady, E; Scorer, J; Abdulrazzaq, Y; Bener, A; Padmanabhan, R
      Pattern of central nervous system anomalies in a population with a high rate of consanguineous marriages

      CLINICAL GENETICS
    62. Stoll, C; Alembik, Y; Roth, MP; Dott, B
      Parental consanguinity as a cause for increased incidence of births defects in a study of 238,942 consecutive births

      ANNALES DE GENETIQUE
    63. Broman, KW; Weber, JL
      Long homozygous chromosomal segments in reference families from the Centred'Etude du Polymorphisme Humain

      AMERICAN JOURNAL OF HUMAN GENETICS
    64. Widmer, E; Romney, AK; Boyd, J
      Cognitive aspects of step- terms in American kinship

      AMERICAN ANTHROPOLOGIST
    65. ELORFI AHA; SINGH M; GIASUDDIN ASM
      CONJUGAL LEPROSY AMONG LIBYAN PATIENTS

      Dermatology
    66. MORTON JEV; KILBY MD; RUSHTON I
      A NEW LETHAL AUTOSOMAL RECESSIVE SKELETAL DYSPLASIA WITH ASSOCIATED DYSMORPHIC FEATURES

      Clinical dysmorphology
    67. BEJAOUI M; BARBOUCHE MR; MELLOULI F; LARGUECHE B; DELLAGI K
      MAJOR HISTOCOMPATIBILITY CLASS-II ANTIGEN DEFICIENCY - 9 NEW TUNISIANCASES

      Archives de pediatrie
    68. STROMME P; VALVATNE K
      MENTAL-RETARDATION IN NORWAY - PREVALENCE AND SUB-CLASSIFICATION IN ACOHORT OF 30037 CHILDREN BORN BETWEEN 1980 AND 1985

      Acta paediatrica
    69. Hamel, M; Geri, C; Auger-Rozenberg, A
      The effects of 20-hydroxyecdysone on breaking diapause of Diprion pini L. (Hym., Diprionidae)

      PHYSIOLOGICAL ENTOMOLOGY
    70. LUNA F; VALLS A; FERNANDEZSANTANDER A
      INBREEDING INCIDENCE ON BIOLOGICAL FITNESS IN AN ISOLATED MEDITERRANEAN POPULATION - LA-ALTA-ALPUJARRA-ORIENTAL (SOUTHEASTERN SPAIN)

      Annals of human biology
    71. ARCHANA B; VISHNUPRIYA S; NANDUR VU; REDDY AP; PADMA T
      ESTIMATION OF GENETIC LOAD IN CASES WITH PROFOUND CONGENITAL NON-SYNDROMIC HEARING IMPAIRMENT

      Medical science research
    72. ARCHANA B; NANDUR VU; REDDY AP; PADMA T
      EVALUATION OF EPIDEMIOLOGIC FACTORS IN PATIENTS WITH CONGENITAL HEARING IMPAIRMENT

      Medical science research
    73. LELANNOU D; THEPOT F; JOUANNET P
      MULTICENTER APPROACHES TO DONOR INSEMINATION IN THE FRENCH CECOS FEDERATION - NATIONWIDE EVALUATION, DONOR MATCHING, SCREENING FOR GENETIC-DISEASES AND CONSANGUINITY

      Human reproduction (Oxford. Print)
    74. SHAH GH; TONEY MB; PITCHER BL
      CONSANGUINITY AND CHILD-MORTALITY - THE RISK FACED BY FAMILIES

      Population research and policy review
    75. GHIASVAND NM; SHIRZAD E; NAGHAVI M; MAHDAVI MRV
      HIGH-INCIDENCE OF AUTOSOMAL RECESSIVE NONSYNDROMAL CONGENITAL RETINALNONATTACHMENT (NCRNA) IN AN IRANIAN FOUNDING POPULATION

      American journal of medical genetics
    76. ISHII E; OHGA S; TANIMURA M; IMASHUKU S; SAKO M; MIZUTANI S; MIYAZAKI S
      CLINICAL AND EPIDEMIOLOGIC STUDIES OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS IN JAPAN

      Medical and pediatric oncology
    77. ALABDULKAREEM AA; BALLAL SG
      CONSANGUINEOUS MARRIAGE IN AN URBAN AREA OF SAUDI-ARABIA - RATES AND ADVERSE HEALTH-EFFECTS ON THE OFFSPRING

      Journal of community health
    78. KABBAJ K; BAALA L; CHHOUL H; SEFIANI A
      AUTOSOMAL RECESSIVE ANHIDROTIC ECTODERMAL DYSPLASIA IN A LARGE MOROCCAN FAMILY

      Journal of Medical Genetics
    79. CALDERON R; PENA JA; DELGADO J; MORALES B
      MULTIPLE KINSHIP IN 2 SPANISH REGIONS - NEW MODEL RELATING MULTIPLE AND SIMPLE CONSANGUINITY

      Human biology
    80. CHRISTENSEN AF
      ETHNOHISTORICAL EVIDENCE FOR INBREEDING AMONG THE PRE-HISPANIC MIXTECROYAL CASTE

      Human biology
    81. BOUCHARD TJ
      GENETIC-INFLUENCES AND ENVIRONMENTAL-INFLUENCES ON ADULT-INTELLIGENCEAND SPECIAL MENTAL ABILITIES

      Human biology
    82. APAYDIN F; PFISTER M; IBER M; KANDOGAN T; LEAL SM; BRANDLE U; CURA O; ZENNER HP
      INITIAL EXPERIENCE WITH THE IDENTIFICATION OF FAMILIES WITH HEREDITARY HEARING-LOSS IN TURKEY

      HNO. Hals-, Nasen-, Ohrenarzte
    83. HUSSAIN R
      THE ROLE OF CONSANGUINITY AND INBREEDING AS A DETERMINANT OF SPONTANEOUS-ABORTION IN KARACHI, PAKISTAN

      Annals of Human Genetics
    84. Al Talabani, J; Shubbar, AI; Mustafa, KE
      Major congenital malformations in United Arab Emirates (UAE): need for genetic counselling

      ANNALS OF HUMAN GENETICS
    85. STOLTENBERG C; MAGNUS P; LIE RT; DALTVEIT AK; IRGENS LM
      INFLUENCE OF CONSANGUINITY AND MATERNAL EDUCATION ON RISK OF STILLBIRTH AND INFANT DEATH IN NORWAY, 1967-1993

      American journal of epidemiology
    86. AKESSON HO
      RETT-SYNDROME - THE SWEDISH GENEALOGIC RESEARCH-PROJECT - NEW DATA AND PRESENT POSITION

      European child & adolescent psychiatry
    87. HOLLODY K; BORVENDEG K; KOSZTOLANYI G
      PEDIGREE ANALYSIS OF HUNGARIAN RETT-SYNDROME GIRLS

      European child & adolescent psychiatry
    88. PATEL JS; MAHER ER; CHARLES AK
      FOCAL DERMAL HYPOPLASIA (GOLTZ-SYNDROME) PRESENTING AS A SEVERE FETALMALFORMATION SYNDROME

      Clinical dysmorphology
    89. PETRIKOVSKY BM; GROSS B; BIALER M; SOLAMANZADEH K; SIMHAEE E
      PRENATAL-DIAGNOSIS OF PSEUDOTHALIDOMIDE SYNDROME IN CONSECUTIVE PREGNANCIES OF A CONSANGUINEOUS COUPLE

      Ultrasound in obstetrics & gynecology
    90. BEJAOUI M; BARBOUCHE MR; SASSI A; LARGUCHE B; MILADI N; BOUGUERRA A; DELLAGI K
      PRIMARY IMMUNODEFICIENCY DISORDERS IN TUNISIA - A STUDY OF 152 CASES

      Archives de pediatrie
    91. SLEIGHT E; COOMBS RC; GIBSON AT; PRIMHAK RA
      NEONATAL RESPIRATORY-DISTRESS IN NEAR-TERM INFANTS - CONSIDER SURFACTANT PROTEIN-B DEFICIENCY

      Acta paediatrica
    92. KHALDI F; BESROUR M; BOUKTHIR S
      ASPARTYLGLUCOSAMINURIA IN A TUNISIAN FAMILY

      Saudi medical journal
    93. BARRY J; KIRKE P
      CONGENITAL-ANOMALIES IN THE IRISH TRAVELER COMMUNITY

      Irish medical journal
    94. SINHA GP; CURTIS P; HAIGH D; LEALMAN GT; DODDS W; BENNETT CP
      PACHYDERMOPERIOSTOSIS IN CHILDHOOD

      British journal of rheumatology
    95. BERTOLA DR; WOLF LM; TORIELLO HV; NETZLOFF ML
      ACRO-OTO-OCULAR SYNDROME - FURTHER EVIDENCE FOR A NEW AUTOSOMAL RECESSIVE DISORDER

      American journal of medical genetics
    96. CASTILLA EE; DUTRA MD; DAFONSECA RL; PAZ JE
      HAND AND FOOT POSTAXIAL POLYDACTYLY - 2 DIFFERENT TRAITS

      American journal of medical genetics
    97. NELSON J; FLAHERTY M; GRATTANSMITH P
      GILLESPIE-SYNDROME - REPORT OF 2 FURTHER CASES

      American journal of medical genetics
    98. JABER L; SHOHAT T; ROTTER JI; SHOHAT M
      CONSANGUINITY AND COMMON ADULT DISEASES IN ISRAELI ARAB COMMUNITIES

      American journal of medical genetics
    99. DEVITTO LPM; COSTA OA; BEVILAQUA MC; PASSEROTTI S; RICHIERICOSTA A
      NEW AUTOSOMAL RECESSIVE SYNDROME OF PROGRESSIVE SENSORINEURAL HEARING-LOSS AND CATARACTS - REPORT ON 2 BRAZILIAN PATIENTS

      American journal of medical genetics
    100. KUMAR D; DUGGAN MB; MUELLER RF; KARBANI G
      FAMILIAL APLASIA HYPOPLASIA OF PELVIS, FEMUR, FIBULA, AND ULNA WITH ABNORMAL DIGITS IN AN INBRED PAKISTANI MUSLIM FAMILY - A POSSIBLE NEW AUTOSOMAL RECESSIVE DISORDER WITH OVERLAPPING MANIFESTATIONS OF THE SYNDROMES OF FUHRMANN, AL-AWADI, AND RAAS-ROTHSCHILD

      American journal of medical genetics


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Documento generato il 27/10/20 alle ore 19:47:17