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La ricerca find articoli where soggetti phrase all words 'CHONDRODYSPLASIA PUNCTATA' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 221 riferimenti
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    1. Kelley, RI
      Inborn errors of sterol biosynthesis

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    2. Legakis, JE; Terlecky, SR
      PTS2 protein import into mammalian peroxisomes

      TRAFFIC
    3. Saxena, SP; Israels, ED; Israels, LG
      Novel vitamin K-dependent pathways regulating cell survival

      APOPTOSIS
    4. Suzuki, Y; Shimozawa, N; Orii, T; Tsukamoto, T; Osumi, T; Fujiki, Y; Kondo, N
      Genetic and molecular bases of peroxisome biogenesis disorders

      GENETICS IN MEDICINE
    5. Nwokoro, NA; Wassif, CA; Porter, FD
      Genetic disorders of cholesterol biosynthesis in mice and humans

      MOLECULAR GENETICS AND METABOLISM
    6. Purdue, PE; Lazarow, PB
      Peroxisome biogenesis

      ANNUAL REVIEW OF CELL AND DEVELOPMENTAL BIOLOGY
    7. Percy, AK; Rutledge, SL
      Adrenoleukodystrophy and related disorders

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    8. Witsch-Baumgartner, M; Loffler, J; Utermann, G
      Mutations in the human DHCR7 gene

      HUMAN MUTATION
    9. Wassif, CA; Zhu, PJ; Kratz, L; Krakowiak, PA; Battaile, KP; Weight, FF; Grinberg, A; Steiner, RD; Nwokoro, NA; Kelley, RI; Stewart, RR; Porter, FD
      Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome

      HUMAN MOLECULAR GENETICS
    10. Seo, KW; Kelley, RI; Okano, S; Watanabe, T
      Mouse Td(ho) abnormality results from double point mutations of the emopamil binding protein gene (Ebp)

      MAMMALIAN GENOME
    11. Malou, E; Gekas, J; Troucelier-Lucas, V; Mornet, E; Razafimanantsoa, L; Cuvelier, B; Mathieu, M; Thepot, F
      X-linked recessive chondrodysplasia punctata: cytogenetic and molecular biology study.

      ARCHIVES DE PEDIATRIE
    12. Becker, K; Csikos, M; Horvath, A; Karpati, S
      Identification of a novel mutation in 3 beta-hydroxysteroid-Delta 8-Delta 7-isomerase in a case of Conradi-Hunermann-Happle syndrome

      EXPERIMENTAL DERMATOLOGY
    13. Powers, JM
      Normal and defective neuronal membranes: Structure and function - Neuronallesions in peroxisomal disorders

      JOURNAL OF MOLECULAR NEUROSCIENCE
    14. Happle, R
      Genetic hair loss

      CLINICS IN DERMATOLOGY
    15. Jacyk, WK
      What syndrome is this?

      PEDIATRIC DERMATOLOGY
    16. Vanzieleghem, BD; Lemmerling, MM; Vermeersch, HF; Govaert, P; Dhooge, I; Meire, F; Mortier, GR; Leroy, J; Kunnen, MF
      Imaging studies in the diagnostic workup of neonatal nasal obstruction

      JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY
    17. Hwong, HK; Lewis, AT; Hsu, S
      Follicular atrophoderma associated with skeletal defects, cataracts, and alopecia

      EUROPEAN JOURNAL OF PEDIATRICS
    18. Morel, F; Fellmann, F; Roux, C; Bresson, JL
      Meiotic segregation analysis by FISH investigation of spermatozoa of a 46,Y,der(X),t(X;Y)(qter -> p22 :: q11 -> qter) carrier

      CYTOGENETICS AND CELL GENETICS
    19. Bae, SH; Seong, J; Paik, YK
      Cholesterol biosynthesis from lanosterol: molecular cloning, chromosomal localization, functional expression and liver-specific gene regulation of rat sterol Delta(8)-isomerase, a cholesterogenic enzyme with multiple functions

      BIOCHEMICAL JOURNAL
    20. Haas, D; Kelley, RI; Hoffmann, GF
      Inherited disorders of cholesterol biosynthesis

      NEUROPEDIATRICS
    21. Yang, XD; Purdue, PE; Lazarow, PB
      Eci1p uses a PTS1 to enter peroxisomes: either its own or that of a partner, Dci1p

      EUROPEAN JOURNAL OF CELL BIOLOGY
    22. Verhoeven, NM; Jakobs, C
      Human metabolism of phytanic acid and pristanic acid

      PROGRESS IN LIPID RESEARCH
    23. Nagan, N; Zoeller, RA
      Plasmalogens: biosynthesis and functions

      PROGRESS IN LIPID RESEARCH
    24. Vassal, H; Medeira, A; Cordeiro, I; Santos, HG; Castedo, S; Saraiva, C; da Silva, PM; Monteiro, C
      Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Leri-Weill dyschondrosteosis, developmental delay, and ichthyosis

      AMERICAN JOURNAL OF MEDICAL GENETICS
    25. Suzuki, Y; Shimozawa, N; Imamura, A; Fukuda, S; Zhang, Z; Orii, T; Kondo, N
      Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders

      JOURNAL OF INHERITED METABOLIC DISEASE
    26. Wanders, RJA; Jansen, GA; Skjeldal, OH
      Refsum disease, peroxisomes and phytanic acid oxidation: A review

      JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
    27. Lindenthal, B; Aldaghlas, TA; Kelleher, JK; Henkel, SM; Tolba, R; Haidl, G; von Bermann, K
      Neutral sterols of rat epididymis: high concentrations of dehydrocholesterols in rat caput epididymidis

      JOURNAL OF LIPID RESEARCH
    28. Recalcati, S; Menotti, E; Kuhn, LC
      Peroxisomal targeting of mammalian hydroxyacid oxidase 1 requires the C-terminal tripeptide SKI

      JOURNAL OF CELL SCIENCE
    29. Chen, C; Wang, Q; Fang, XD; Xu, Q; Chi, CW; Gu, JX
      Roles of phytanoyl-CoA alpha-hydroxylase in mediating the expression of human coagulation factor VIII

      JOURNAL OF BIOLOGICAL CHEMISTRY
    30. Dodt, G; Warren, D; Becker, E; Rehling, P; Gould, SJ
      Domain mapping of human PEX5 reveals functional and structural similarities to Saccharomyces cerevisiae Pex18p and Pex21p

      JOURNAL OF BIOLOGICAL CHEMISTRY
    31. Su, HM; Moser, AB; Moser, HW; Watkins, PA
      Peroxisomal straight-chain acyl-CoA oxidase and D-bifunctional protein areessential for the retroconversion step in docosahexaenoic acid synthesis

      JOURNAL OF BIOLOGICAL CHEMISTRY
    32. Seidel, J; Schiller, S; Kelbova, C; Beensen, V; Orth, U; Vogt, S; Claussen, U; Zintl, F; Rappold, GA
      Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation

      CLINICAL GENETICS
    33. Ofman, R; Lajmir, S; Wanders, RJA
      Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: Resolution of the genomic organization of the human GNPAT gene and its use in the identification of novel mutations

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    34. Formicola, V; Pontrandolfi, A; Svoboda, J
      The Upper Paleolithic triple burial of Dolni Vestonice: Pathology and funerary behavior

      AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY
    35. Motley, AM; Hettema, EH; Ketting, R; Plasterk, R; Tabak, HF
      Caenorhabditis elegans has a single pathway to target matrix proteins to peroxisomes

      EMBO REPORTS
    36. Incardona, JP; Roelink, H
      The role of cholesterol in Shh signaling and teratogen-induced holoprosencephaly

      CELLULAR AND MOLECULAR LIFE SCIENCES
    37. Waterham, HR; Wanders, RJA
      Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Optiz syndrome

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
    38. Herman, GE
      X-linked dominant disorders of cholesterol biosynthesis in man and mouse

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
    39. Traupe, H; Has, C
      The Conradi-Hunermann-Happle syndrome is caused by mutations in the gene that encodes a Delta 8-Delta 7 sterol isomerase and is biochemically relatedto the CHILD syndrome

      EUROPEAN JOURNAL OF DERMATOLOGY
    40. Porter, FD
      RSH/Smith-Lemli-Opitz syndrome: A multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis

      MOLECULAR GENETICS AND METABOLISM
    41. Moser, HW
      Molecular genetics of peroxisomal disorders

      FRONTIERS IN BIOSCIENCE
    42. Warren, DS; Wolfe, BD; Gould, SJ
      Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients

      HUMAN MUTATION
    43. Has, C; Bruckner-Tuderman, L; Muller, D; Floeth, M; Folkers, E; Donnai, D; Traupe, H
      The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism

      HUMAN MOLECULAR GENETICS
    44. Kraemer, C; Enklaar, T; Zabel, B; Schmidt, ER
      Mapping and structure of DMXL1, a human homologue of the DmX gene from Drosophila melanogaster coding for a WD repeat protein

      GENOMICS
    45. Braverman, N; Steel, G; Lin, P; Moser, A; Moser, H; Valle, D
      PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter

      GENOMICS
    46. Gartner, J
      Organelle disease: peroxisomal disorders

      EUROPEAN JOURNAL OF PEDIATRICS
    47. Szilard, RK; Rachubinski, RA
      Tetratricopeptide repeat domain of Yarrowia lipolytica Pex5p is essential for recognition of the type 1 peroxisomal targeting signal but does not confer full biological activity on Pex5p

      BIOCHEMICAL JOURNAL
    48. Lee, ZH; Kim, HH; Ahn, KY; Seo, KH; Kim, JK; Bae, CS; Kim, KK
      Identification of a brain specific protein that associates with a Refsum disease gene product, phytanoyl-CoA alpha-hydroxylase

      MOLECULAR BRAIN RESEARCH
    49. Gould, SJ; Valle, D
      Peroxisome biogenesis disorders - genetics and cell biology

      TRENDS IN GENETICS
    50. Van Driel, D; Wesseling, J; Rosendaal, FR; Odink, RJ; Van der Veer, E; Gerver, WJ; Geven-Boere, LM; Sauer, PJJ
      Growth until puberty after in utero exposure to coumarins

      AMERICAN JOURNAL OF MEDICAL GENETICS
    51. Ikegawa, S; Ohashi, H; Ogata, T; Honda, A; Tsukahara, M; Kubo, T; Kimizuka, M; Shimode, M; Hasegawa, T; Nishimura, G; Nakamura, Y
      Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata

      AMERICAN JOURNAL OF MEDICAL GENETICS
    52. Happle, R; Konig, A; Grzeschik, KH
      Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3 beta-hydroxysteroid-Delta 8, Delta 7-isomerase

      AMERICAN JOURNAL OF MEDICAL GENETICS
    53. Grange, DK; Kelley, RI
      Reply to the letter to the editor by Happle et al. - "Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3 beta-hydroxysteroid-Delta(8), Delta(7)-isomerase"

      AMERICAN JOURNAL OF MEDICAL GENETICS
    54. Wandstrat, AE; Conroy, JM; Zurcher, VL; Pasztor, LM; Clark, BA; Zackowski, JL; Schwartz, S
      Molecular and cytogenetic analysis of familial Xp deletions

      AMERICAN JOURNAL OF MEDICAL GENETICS
    55. Grange, DK; Kratz, LE; Braverman, NE; Kelley, RI
      CHILD syndrome caused by deficiency of 3 beta-hydroxysteroid-Delta(8), Delta(7)-isomerase

      AMERICAN JOURNAL OF MEDICAL GENETICS
    56. Konig, A; Happle, R; Bornholdt, D; Engel, H; Grzeschik, KH
      Mutations in the NSDHL gene, encoding a 3 beta-hydroxysteroid dehydrogenase, cause CHILD syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    57. Gartner, J
      Disorders related to peroxisomal membranes

      JOURNAL OF INHERITED METABOLIC DISEASE
    58. Sacksteder, KA; Gould, SJ
      The genetics of peroxisome biogenesis

      ANNUAL REVIEW OF GENETICS
    59. Subramani, S; Koller, A; Snyder, WB
      Import of peroxisomal matrix and membrane proteins

      ANNUAL REVIEW OF BIOCHEMISTRY
    60. Imamura, A; Shimozawa, N; Suzuki, Y; Zhang, ZY; Tsukamoto, T; Fujiki, Y; Orii, T; Osumi, T; Wanders, RJA; Kondo, N
      Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): Comparative study of PEX6 and PEX1

      PEDIATRIC RESEARCH
    61. Sandhir, R; Khan, M; Singh, I
      Identification of the pathway of alpha-oxidation of cerebronic acid in peroxisomes

      LIPIDS
    62. Slavotinek, A; Kingston, H
      Punctate calcification of the epiphyses, visceral malformations, and craniofacial dysmorphism in a female baby

      JOURNAL OF MEDICAL GENETICS
    63. Croes, K; Foulon, V; Casteels, M; Van Veldhoven, PP; Mannaerts, GP
      Phytanoyl-CoA hydroxylase: recognition of 3-methyl-branched acyl-CoAs and requirement for GTP or ATP and Mg2+ in addition to its known hydroxylation cofactors

      JOURNAL OF LIPID RESEARCH
    64. Matsumura, T; Otera, H; Fujiki, Y
      Disruption of the interaction of the longer isoform of Pex5p, Pex5pL, withPex7p abolishes peroxisome targeting signal type 2 - Study with a novel PEX5-impaired Chinese hamster ovary cell mutant

      JOURNAL OF BIOLOGICAL CHEMISTRY
    65. Fujiki, Y
      Peroxisome biogenesis and peroxisome biogenesis disorders

      FEBS LETTERS
    66. DiPreta, EA; Smith, KJ; Skelton, H
      Cholesterol metabolism defect associated with Conradi-Hunerman-Happle syndrome

      INTERNATIONAL JOURNAL OF DERMATOLOGY
    67. Muntau, AC; Holzinger, A; Mayerhofer, PU; Gartner, J; Roscher, AA; Kammerer, S
      The human PEX3 gene encoding a peroxisomal assembly protein: Genomic organization, positional mapping, and mutation analysis in candidate phenotypes

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    68. Witsch-Baumgartner, M; Fitzky, BU; Ogorelkova, M; Kraft, HG; Moebius, FF; Glossmann, H; Seedorf, U; Gillessen-Kaesbach, G; Hoffmann, GF; Clayton, P; Kelley, RI; Utermann, G
      Mutational spectrum in the Delta 7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    69. Moser, HW
      Molecular genetics of peroxisomal disorders

      PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE
    70. Biermann, J; Gootjes, J; Wanders, RJA; van den Bosch, H
      Stability of alkyl-dihydroxyacetonephosphate synthase in human control andperoxisomal disorder fibroblasts

      IUBMB LIFE
    71. Shimozawa, N; Suzuki, Y; Zhang, ZY; Miura, K; Matsumoto, A; Nagaya, M; Castillo-Taucher, S; Kondo, N
      A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata

      JOURNAL OF HUMAN GENETICS
    72. Ofman, R; Hogenhout, EM; Wanders, RJA
      Identification and characterization of the mouse cDNA encoding acyl-CoA : dihydroxyacetone phosphate acyltransferase

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
    73. Dahl, HHM; Osborn, AH; Hutchison, WM; Thorburn, DR; Sheffield, LJ
      Late diagnosis of maternal PKU in a family segregating an arylsulfatse E mutation causing symmetrical chondrodysplasia punctata

      MOLECULAR GENETICS AND METABOLISM
    74. Moser, HW
      Genotype-phenotype correlations in disorders of peroxisome biogenesis

      MOLECULAR GENETICS AND METABOLISM
    75. Braverman, N; Lin, P; Moebius, FF; Obie, C; Moser, A; Glossmann, H; Wilcox, WR; Rimoin, DL; Smith, M; Kratz, L; Kelley, RI; Valle, D
      Mutations in the gene encoding 3 beta-hydroxysteroid-Delta(8),Delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome

      NATURE GENETICS
    76. Collins, CS; Gould, SJ
      Identification of a common PEX1 mutation in Zellweger syndrome

      HUMAN MUTATION
    77. Zhang, ZY; Suzuki, Y; Shimozawa, N; Fukuda, S; Imamura, A; Tsukamoto, T; Osumi, T; Fujiki, Y; Orii, T; Wanders, RJA; Barth, PG; Moser, HW; Paton, BC; Besley, GT; Kondo, N
      Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders

      HUMAN MUTATION
    78. Houten, SM; Romeijn, GJ; Koster, J; Gray, RGF; Darbyshire, P; Smit, GPA; de Klerk, JBC; Duran, M; Gibson, KM; Wanders, RJA; Waterham, HR
      Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis

      HUMAN MOLECULAR GENETICS
    79. Shimozawa, N; Suzuki, Y; Zhang, ZY; Imamura, A; Toyama, R; Mukai, S; Fujiki, Y; Tsukamoto, T; Osumi, T; Orii, T; Wanders, RJA; Kondo, N
      Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders

      HUMAN MOLECULAR GENETICS
    80. Tabak, HF; Braakman, I; Distel, B
      Peroxisomes: simple in function but complex in maintenance

      TRENDS IN CELL BIOLOGY
    81. Cassidy, L; Taylor, D
      Congenital cataract and multisystem disorders

      EYE
    82. Hou, JW; Tsai, WY; Wang, TR
      Detection of KAL-1 gene deletion with fluorescence in situ hybridization

      JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
    83. Pineda, M; Giros, M; Roels, F; Espeel, M; Ruiz, M; Moser, A; Moser, HW; Wanders, RJA; Pavia, C; Conill, J; Aracil, A; Amat, L; Pampols, T
      Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomalmosaicism

      JOURNAL OF CHILD NEUROLOGY
    84. Percy, AK
      Inherited neurodegenerative disease: The evolution of our thinking

      JOURNAL OF CHILD NEUROLOGY
    85. Wanders, RJA
      Peroxisomal disorders: Clinical, biochemical, and molecular aspects

      NEUROCHEMICAL RESEARCH
    86. Maxwell, MA; Nelson, PV; Chin, SJ; Paton, BC; Carey, WF; Crane, DI
      A common PEX1 frameshift mutation in patients with disorders of peroxisomebiogenesis correlates with the severe Zellweger syndrome phenotype

      HUMAN GENETICS
    87. Tongsong, T; Wanapirak, C; Piyamongkol, W
      Prenatal ultrasonographic findings consistent with fetal warfarin syndrome

      JOURNAL OF ULTRASOUND IN MEDICINE
    88. Will, GK; Soukupova, M; Hong, X; Erdmann, KS; Kiel, JAKW; Dodt, G; Kunau, WH; Erdmann, R
      Identification and characterization of the human orthologue of yeast pex14p

      MOLECULAR AND CELLULAR BIOLOGY
    89. Brookhyser, KM; Lipson, MH; Moser, AB; Moser, HW; Lachman, RS; Rimoin, DL
      Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolatedalkyldihydroacetonephosphate acyltransferase synthase deficiency

      PRENATAL DIAGNOSIS
    90. Soukupova, M; Sprenger, C; Gorgas, K; Kunau, WH; Dodt, G
      Identification and characterization of the human peroxin PEX3

      EUROPEAN JOURNAL OF CELL BIOLOGY
    91. Biermann, J; Gootjes, J; Humbel, BM; Dansen, TB; Wanders, RJA; van den Bosch, H
      Immunological analyses of alkyl-dihydroxyacetonephosphate synthase in human peroxisomal disorders

      EUROPEAN JOURNAL OF CELL BIOLOGY
    92. Hettema, EH; Distel, B; Tabak, HF
      Import of proteins into peroxisomes

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
    93. Dubois-Dalcq, M; Feigenbaum, V; Aubourg, P
      The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder

      TRENDS IN NEUROSCIENCES
    94. de Vries, BBA; Eussen, BHJ; van Diggelen, OP; van der Heide, A; Deelen, WH; Govaerts, LCP; Lindhout, D; Wouters, CH; Van Hemel, JO
      Submicroscopic xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    95. Steinberg, SJ; Elcioglu, N; Slade, CM; Sankaralingam, A; Dennis, N; Mohammed, SN; Fensom, AH
      Peroxisomal disorders: Clinical and biochemical studies in 15 children andprenatal diagnosis in 7 families

      AMERICAN JOURNAL OF MEDICAL GENETICS
    96. Traupe, H
      Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko

      AMERICAN JOURNAL OF MEDICAL GENETICS
    97. Patel, MS; Callahan, JW; Zhang, SQ; Chan, AKJ; Unger, S; Levin, AV; Skomorowski, MA; Feigenbaum, AS; O'Brien, K; Hellman, J; Ryan, G; Velsher, L; Chitayat, D
      Early-infantile galactosialidosis: Prenatal presentation and postnatal follow-up

      AMERICAN JOURNAL OF MEDICAL GENETICS
    98. Spranger, S; Schiller, S; Jauch, A; Wolff, K; Rauterberg-Ruland, I; Hager, D; Tariverdian, G; Troger, J; Rappold, G
      Leri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3

      AMERICAN JOURNAL OF MEDICAL GENETICS
    99. Kelly, TE; Alford, BA; Greer, KM
      Chondrodysplasia punctata stemming from maternal lupus erythematosus

      AMERICAN JOURNAL OF MEDICAL GENETICS
    100. Kelley, RI; Wilcox, WG; Smith, M; Kratz, LE; Moser, A; Rimoin, DS
      Rapid publication - Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata

      AMERICAN JOURNAL OF MEDICAL GENETICS


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Documento generato il 07/06/20 alle ore 06:13:41