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    1. Pras, E; Pras, E; Bakhan, T; Levy-Nissenbaum, E; Lahat, H; Assia, EI; Garzozi, HJ; Kastner, DL; Goldman, B; Frydman, M
      A gene causing autosomal recessive cataract maps to the short arm of chromosome 3

      ISRAEL MEDICAL ASSOCIATION JOURNAL
    2. Achiron, R; Frydman, M; Lipitz, S; Zalel, Y
      Urorectal septum malformation sequence: prenatal sonographic diagnosis in two sets of discordant twins

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    3. Frydman, M; Vreugde, S; Nageris, BI; Weiss, S; Vahava, O; Avraham, KB
      Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor

      ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY
    4. Sobe, T; Vreugde, S; Shahin, H; Berlin, M; Davis, N; Kanaan, M; Yaron, Y; Orr-Urtreger, A; Frydman, M; Shohat, M; Avraham, KB
      The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population

      HUMAN GENETICS
    5. Pesso, R; Berkenstadt, H; Cuckle, H; Gak, E; Peleg, L; Frydman, M; Barkai, G
      Screening for fragile X syndrome in women of reproductive age

      PRENATAL DIAGNOSIS
    6. Ries, L; Frydman, M; Barkai, G; Goldman, B; Friedman, E
      Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy

      PRENATAL DIAGNOSIS
    7. Achiron, R; Heggesh, J; Grisaru, D; Goldman, B; Lipitz, S; Yagel, S; Frydman, M
      Noonan syndrome: A cryptic condition in early gestation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Aviram-Goldring, A; Fritz, B; Bartsch, C; Steuber, E; Daniely, M; Lev, D; Chaki, R; Barkai, G; Frydman, M; Rehder, H
      Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Aviram-Goldring, A; Daniely, M; Frydman, M; Shneyour, Y; Cohen, H; Barkai, G
      Congenital diaphragmatic hernia in a family segregating a reciprocal translocation t(5;15)(p15.3;q24)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    10. Pras, E; Frydman, M; Levy-Nissenbaum, E; Bakhan, T; Raz, J; Assia, EI; Goldman, B; Pras, E
      A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    11. Celli, J; van Beusekom, E; Hennekam, RCM; Gallardo, ME; Smeets, DFCM; de Cordoba, SR; Innis, JW; Frydman, M; Konig, R; Kingston, H; Tolmie, J; Govaerts, LCP; van Bokhoven, H; Brunner, HG
      Familial syndromic esophageal atresia maps to 2p23-p24

      AMERICAN JOURNAL OF HUMAN GENETICS
    12. Gothelf, D; Frisch, A; Munitz, H; Rockah, R; Laufer, N; Mozes, T; Hermesh, H; Weizman, A; Frydman, M
      Clinical characteristics of schizophrenia associated with velo-cardio-facial syndrome

      SCHIZOPHRENIA RESEARCH
    13. McIntosh, I; Clough, MV; Gak, E; Frydman, M
      Prenatal diagnosis of nail-patella syndrome

      PRENATAL DIAGNOSIS
    14. GILAD S; KHOSRAVI R; HARNIK R; ZIV Y; SHKEDY D; GALANTY Y; FRYDMAN M; LEVI J; SANAL O; CHESSA L; SMEETS D; SHILOH Y; BARSHIRA A
      IDENTIFICATION OF ATM MUTATIONS USING EXTENDED RT-PCR AND RESTRICTION-ENDONUCLEASE FINGERPRINTING, AND ELUCIDATION OF THE REPERTOIRE OF A-TMUTATIONS IN ISRAEL

      Human mutation
    15. GILAD S; KHOSRAVI R; HARNIK R; ZIV Y; SHKEDY D; GALANTY Y; FRYDMAN M; LEVI J; SANAL O; CHESSA L; SMEETS D; SHILOH Y; BARSHIRA A
      IDENTIFICATION OF ATM MUTATIONS USING EXTENDED RT-PCR AND RESTRICTION-ENDONUCLEASE FINGERPRINTING, AND ELUCIDATION OF THE REPERTOIRE OF A-TMUTATIONS IN ISRAEL

      Human mutation
    16. PELEG L; FRISCH A; GOLDMAN B; KARPATY M; NARINSKY R; BRONSTEIN S; FRYDMAN M
      LOWER FREQUENCY OF GAUCHER-DISEASE CARRIERS AMONG TAY-SACHS-DISEASE CARRIERS

      European journal of human genetics
    17. ROCKAH R; NARINSKY R; FRYDMAN M; COHEN IJ; ZAIZOV R; WEIZMAN A; FRISCH A
      LINKAGE DISEQUILIBRIUM OF COMMON GAUCHER-DISEASE MUTATIONS WITH A POLYMORPHIC SITE IN THE PYRUVATE-KINASE (PKLR) GENE

      American journal of medical genetics
    18. KAUSCHANSKY A; SHOHAT M; FRYDMAN M; ROSLER A; GREENBAUM E; SIROTA L
      SYNDROME OF ALOPECIA TOTALIS AND 17B-HYDROXYSTEROID DEHYDROGENASE-DEFICIENCY

      American journal of medical genetics
    19. Kauschansky, A; Frydman, M; Assa, S; Kwon, OJ; Israel, S; Lazard, D; Sprecher, E; Bloch, K; Brautbar, C; Vardi, P
      D-penicillamine-induced pancreatic islet autoantibody production is independent of the immunogenetic background: A lesson from patients with Wilson'sdisease

      CLINICAL IMMUNOLOGY AND IMMUNOPATHOLOGY
    20. VAHAVA O; MORELL R; LYNCH ED; WEISS S; KAGAN ME; AHITUV N; MORROW JE; LEE MK; SKVORAK AB; MORTON CC; BLUMENFELD A; FRYDMAN M; FRIEDMAN TB; KING MC; AVRAHAM KB
      MUTATION IN TRANSCRIPTION FACTOR POU4F3 ASSOCIATED WITH INHERITED PROGRESSIVE HEARING-LOSS IN HUMANS

      Science
    21. GAZIT E; LUBOMIROV L; MUNAKOV O; TOPPER A; FRYDMAN M; FRIED K; BOROCHOVITZ Z; DANGOOR N; BOGOLUBOV A; CARP HJA
      DISTRIBUTION OF CAG REPEATS IN NORMAL AND HUNTINGTONS-DISEASE PATIENTS IN ISRAEL

      Clinical genetics
    22. McIntosh, I; Dreyer, SD; Clough, MV; Dunston, JA; Eyaid, W; Roig, CM; Montgomery, T; Ala-Mello, S; Kaitila, I; Winterpacht, A; Zabel, B; Frydman, M; Cole, WG; Francomano, CA; Lee, B
      Mutation analysis of LMX1B gene in nail-patella syndrome patients

      AMERICAN JOURNAL OF HUMAN GENETICS
    23. PESSO R; BARKAI G; RAVIA Y; GAK E; FRYDMAN M; GOLDMAN B; FRIEDMAN E
      NO FOUNDER EFFECT DETECTED IN JEWISH ASHKENAZI PATIENTS WITH FRAGILE-X-SYNDROME

      Human genetics
    24. GOTHELF D; FRISCH A; MUNITZ H; ROCKAH R; AVIRAM A; MOZES T; BIRGER M; WEIZMAN A; FRYDMAN M
      VELOCARDIOFACIAL MANIFESTATIONS AND MICRODELETIONS IN SCHIZOPHRENIC INPATIENTS

      American journal of medical genetics
    25. FRYDMAN M; KATZ M; CABOT SG; SOEN G; KAUSCHANSKY A; SIROTA L
      MODED - MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME

      American journal of medical genetics
    26. MELAMED Y; BECKER A; SPIERER S; FRYDMAN M
      DENTAL AND ORAL ASYMMETRIES IN RUSSELL-SILVER-SYNDROME

      Journal of dental research
    27. MELAMED Y; EIDELMAN E; FRYDMAN M
      MULTIPLE SINGLE-ROOTED PERMANENT MOLARS, OLIGODONTIA, FACIAL ASYMMETRY AND OTOSCLEROSIS - A NEW SYNDROME

      Journal of dental research
    28. MUNOZ F; LESTRINGANT G; SYBERT V; FRYDMAN M; ALSWAINI A; FROSSARD PM; JORGENSON R; ZONANA J
      DEFINITIVE EVIDENCE FOR AN AUTOSOMAL RECESSIVE FORM OF HYPOHIDROTIC ECTODERMAL DYSPLASIA CLINICALLY INDISTINGUISHABLE FROM THE MORE COMMON X-LINKED DISORDER

      American journal of human genetics
    29. GILAD S; KHOSRAVI R; SHKEDY D; UZIEL T; ZIV Y; SAVITSKY K; ROTMAN G; SMITH S; CHESSA L; JORGENSEN TJ; HARNIK R; FRYDMAN M; SANAL O; PORTNOI S; GOLDWICZ Z; JASPERS NGJ; GATTI RA; LENOIR G; LAVIN MF; TATSUMI K; WEGNER RD; SHILOH Y; BARSHIRA A
      PREDOMINANCE OF NULL MUTATIONS IN ATAXIA-TELANGIECTASIA

      Human molecular genetics
    30. GILAD S; BARSHIRA A; HARNIK R; SHKEDY D; ZIV Y; KHOSRAVI R; BROWN K; VANAGAITE L; XU G; FRYDMAN M; LAVIN MF; HILL D; TAGLE DA; SHILOH Y
      ATAXIA-TELANGIECTASIA - FOUNDER EFFECT AMONG NORTH-AFRICAN JEWS

      Human molecular genetics
    31. FRYDMAN M; VARDIMON D; SHALEV E; ORLIN JB
      PRENATAL-DIAGNOSIS OF RAMBAN-HASHARON SYNDROME

      Prenatal diagnosis
    32. ABELIOVICH D; DAGAN J; LERER I; SILBERSTEIN S; KATZNELSON MBM; FRYDMAN M
      T(15-21)(Q15-Q22.1)PAT RESULTING IN PARTIAL TRISOMY AND PARTIAL MONOSOMY OF CHROMOSOME-15 AND CHROMOSOME-21 IN 2 OFFSPRING

      American journal of medical genetics
    33. COHEN HA; COHEN Z; FRYDMAN M
      FIXED DRUG ERUPTION OF THE SCROTUM DUE TO HYDROXYZINE HYDROCHLORIDE (ATARAX(R))

      Cutis
    34. BONNETAMIR B; DESTEFANO AL; BRIGGS CE; ADAIR R; FRANKLYN B; WEISS S; KOROSTISHEVSKY M; FRYDMAN M; BALDWIN CT; FARRER LA
      LINKAGE OF CONGENITAL RECESSIVE DEAFNESS (GENE DFNB10) TO CHROMOSOME 21Q22.3

      American journal of human genetics
    35. LUDECKE HJ; WAGNER MJ; NARDMANN J; LAPILLO B; PARRISH JE; WILLEMS PJ; HAAN EA; FRYDMAN M; HAMERS GJH; WELLS DE; HORSTHEMKE B
      MOLECULAR DISSECTION OF A CONTIGUOUS GENE SYNDROME - LOCALIZATION OF THE GENES INVOLVED IN THE LANGER-GIEDION SYNDROME

      Human molecular genetics
    36. KAUSCHANSKY A; FRYDMAN M; NUSSINOVITCH M; VARSANO I
      EVALUATION OF HUMAN CHORIONIC-GONADOTROPIN STIMULATION TESTS IN PREPUBERTAL AND EARLY PUBERTAL BOYS

      European journal of pediatrics
    37. FRYDMAN M; STRAUSSBERG R; SHOMRAT R; GOEBEL H; LEGUM C; SHILOH Y
      DUCHENNE MUSCULAR-DYSTROPHY AND IDIOPATHIC HYPERCKEMIA SEGREGATING INA FAMILY

      American journal of medical genetics
    38. SAVITSKY K; BARSHIRA A; GILAD S; ROTMAN G; ZIV Y; VANAGAITE L; TAGLE DA; SMITH S; UZIEL T; SFEZ S; ASHKENAZI M; PECKER I; FRYDMAN M; HARNIK R; PATANJALI SR; SIMMONS A; CLINES GA; SARTIEL A; GATTI RA; CHESSA L; SANAL O; LAVIN MF; JASPERS NGJ; MALCOLM A; TAYLOR R; ARLETT CF; MIKI T; WEISSMAN SM; LOVETT M; COLLINS FS; SHILOH Y
      A SINGLE ATAXIA-TELANGIECTASIA GENE WITH A PRODUCT SIMILAR TO PI-3 KINASE

      Science
    39. KAUSCHANSKY A; NUSSINOVITCH M; FRYDMAN M; YESHAYA A; BENRAFAEL Z
      HYPERPROLACTINEMIA AFTER TREATMENT OF LONG-ACTING GONADOTROPIN-RELEASING-HORMONE ANALOG DECAPEPTYL-ASTERISK IN GIRLS WITH CENTRAL PRECOCIOUS PUBERTY

      Fertility and sterility
    40. PARET G; VARDI A; YAHAV J; FRYDMAN M; BARZILAY Z
      IDIOPATHIC FAMILIAL INTUSSUSCEPTION

      Clinical pediatrics
    41. FUNES A; KALINSKY H; ZELDIN A; FRYDMAN M; BONNETAMIR B
      DIVERSITY OF WILSON-DISEASE HAPLOTYPES AND MUTATIONS IN ISRAELI FAMILIES

      American journal of human genetics
    42. MUNOZ F; JORGENSON R; SYBERT V; LESTRINGANT G; FROSSARD PM; FRYDMAN M; ZONANA J
      EVIDENCE TAR A RAPE AUTOSOMAL RECESSIVE FORM OF HYPOHIDROTIC ECTODERMAL DYSPLASIA (ARHED) CLINICALLY INDISTINGUISHABLE FROM THE X-LINKED DISORDER AT THE EFA LOCUS

      American journal of human genetics
    43. MELAMED Y; BARKAI G; FRYDMAN M
      MULTIPLE SUPERNUMERARY TEETH (MSNT) AND EHLERS-DANLOS SYNDROME (EDS) - A CASE-REPORT

      Journal of oral pathology & medicine
    44. CLEPER R; KAVSCHANSKY A; VARSANO I; FRYDMAN M
      OFD VI AND C SYNDROMES - REPLY

      American journal of medical genetics
    45. COHEN HA; KAUSCHANSKY A; ASHKENASI A; BAHIR A; FRYDMAN M; HOREV Z
      SWIMMING AND GROMMETS

      Journal of family practice
    46. MELAMED Y; KATZNELSON MBM; FRYDMAN M
      OLIGODONTIA, SHORT STATURE AND SMALL HEAD CIRCUMFERENCE WITH NORMAL INTELLIGENCE

      Clinical genetics
    47. COHEN HA; NUSSINOVITCH M; ASHKENASI A; STRAUSSBERG R; KAUSCHANKSY A; FRYDMAN M
      BENIGN PAROXYSMAL TORTICOLLIS IN INFANCY

      Pediatric neurology
    48. FINKELSTEIN Y; ZOHAR Y; NACHMANI A; TALMI YP; LERNER MA; HAUBEN DJ; FRYDMAN M
      THE OTOLARYNGOLOGIST AND THE PATIENT WITH VELOCARDIOFACIAL SYNDROME

      Archives of otolaryngology, head & neck surgery
    49. COCHIUS JI; FIGLEWICZ DA; KALVIAINEN R; NOUSIAINEN U; FARRELL K; PATRY G; SODERFELDT B; FRYDMAN M; LERMAN P; ANDERMANN F; ANDERMANN E; ROULEAU GA
      UNVERRICHT-LUNDBORG DISEASE - ABSENCE OF NONALLELIC GENETIC-HETEROGENEITY

      Annals of neurology
    50. CLEPER R; KAUSCHANSKY A; VARSANO I; FRYDMAN M
      VARADI SYNDROME (OFD-VI) OR OPITZ TRIGONOCEPHALY SYNDROME - OVERLAPPING MANIFESTATIONS IN 2 COUSINS

      American journal of medical genetics
    51. FRYDMAN M; COHEN HA
      LEUKONYCHIA-TOTALIS IN 2 SIBS

      American journal of medical genetics
    52. FRYDMAN M; JAGERROMAN E; DEVRIES L; STOLTENBURGDIDINGER G; NUSSINOVITCH M; SIROTA L
      ALPERS PROGRESSIVE INFANTILE NEURONAL POLIODYSTROPHY - AN ACUTE NEONATAL FORM WITH FINDINGS OF THE FETAL AKINESIA SYNDROME

      American journal of medical genetics
    53. COHEN HA; NUSSINOVITCH M; KAUSCHANSKY A; STRAUSSBERG R; ASHKENASI A; FRYDMAN M; VARSANO I
      EXTRAORDINARY DAYTIME URINARY FREQUENCY IN CHILDREN

      Journal of family practice
    54. HAMIEL OP; RAASROTHSCHILD A; UPADHYAYA M; FRYDMAN M; SAROVAPINHAS I; BRAND N; PASSWELL JH
      HEREDITARY MOTOR-SENSORY NEUROPATHY (CHARCOT-MARIE-TOOTH DISEASE) WITH NERVE DEAFNESS - A NEW VARIANT

      The Journal of pediatrics
    55. NUSSINOVITCH M; COHEN HA; FRYDMAN M; VARSANO I
      CEREBROSPINAL-FLUID PLEOCYTOSIS IN CHILDREN WITH PNEUMONIA BUT LACKING EVIDENCE OF MENINGITIS

      Clinical pediatrics
    56. COHEN HA; NUSSINOVITCH M; GROSS S; HART J; FRYDMAN M
      TREATMENT OF CHRONIC IDIOPATHIC THROMBOCYTOPENIC PURPURA WITH ASCORBATE

      Clinical pediatrics
    57. ASHKENASI A; AMIR J; COHEN HA; FRYDMAN M; VARSANO I; LAHAT E
      STATUS EPILEPTICUS ENCEPHALOPATHY WITH CAT-SCRATCH DISEASE

      Clinical pediatrics
    58. FRYDMAN M; FINKELSTEIN Y; RAVIA Y; SCAMBLER PJ; GOLDMAN B
      VELO-CARDIO-FACIAL SYNDROME (VCFS) - CLINICAL-STUDIES IN 27 PATIENTS AND PRELIMINARY-RESULTS OF MOLECULAR ANALYSIS

      American journal of human genetics
    59. ABELIOVICH D; LERER I; PASHUTLAVON I; SHMUELI E; RAASROTHSCHILD A; FRYDMAN M
      NEGATIVE EXPANSION OF THE MYOTONIC-DYSTROPHY UNSTABLE SEQUENCE

      American journal of human genetics
    60. ZIV Y; FRYDMAN M; LANGE E; ZELNIK N; ROTMAN G; JULIER C; JASPERS NGJ; DAGAN Y; ABELIOVICZ D; DAR H; BOROCHOWITZ Z; LATHROP M; GATTI RA; SHILOH Y
      ATAXIA-TELANGIECTASIA - LINKAGE ANALYSIS IN HIGHLY INBRED ARAB AND DRUZE FAMILIES AND DIFFERENTIATION FROM AN ATAXIA-MICROCEPHALY-CATARACT SYNDROME

      Human genetics


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Documento generato il 03/06/20 alle ore 00:24:32