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    1. Jaeken, J; Matthijs, G
      Congenital disorders of glycosylation

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    2. Hertz, JM; Juncker, I; Persson, U; Matthijs, G; Schmidtke, J; Petersen, MB; Kjeldsen, M; Gregersen, N
      Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome

      HUMAN MUTATION
    3. Scheffer, H; Cobben, JM; Matthijs, G; Wirth, B
      Best practice guidelines for molecular analysis in spinal muscular atrophy

      EUROPEAN JOURNAL OF HUMAN GENETICS
    4. Sobacchi, C; Frattini, A; Orchard, P; Porras, O; Tezcan, I; Andolina, M; Babul-Hirji, R; Baric, I; Canham, N; Chitayat, D; Dupuis-Girod, S; Ellis, I; Etzioni, A; Fasth, A; Fisher, A; Gerritsen, B; Gulino, V; Horwitz, E; Klamroth, V; Lanino, E; Mirolo, M; Musio, A; Matthijs, G; Nonomaya, S; Notarangelo, LD; Ochs, HD; Furga, AS; Valiaho, J; van Hove, JLK; Vihinen, M; Vujic, D; Vezzoni, P; Villa, A
      The mutational spectrum of human malignant autosomal recessive osteopetrosis

      HUMAN MOLECULAR GENETICS
    5. Heykants, L; Schollen, E; Grunewald, S; Matthijs, G
      Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2

      GENE
    6. Drouin-Garraud, V; Belgrand, M; Grunewald, S; Seta, N; Dacher, JN; Henocq, A; Matthijs, G; Cormier-Daire, V; Frebourg, T; Saugier-Veber, P
      Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. de Lonlay, P; Seta, N; Barrot, S; Chabrol, B; Drouin, V; Gabriel, BM; Journel, H; Kretz, M; Laurent, J; Le Merrer, M; Leroy, A; Pedespan, D; Sarda, P; Villeneuve, N; Schmitz, J; van Schaftingen, E; Matthijs, G; Jaeken, J; Korner, C; Munnich, A; Saudubray, JM; Cormier-Daire, V
      A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

      JOURNAL OF MEDICAL GENETICS
    8. Schenk, B; Imbach, T; Frank, CG; Grubenmann, CE; Raymond, GV; Hurvitz, H; Raas-Rotschild, A; Luder, AS; Jaeken, J; Berger, EG; Matthijs, G; Hennet, T; Aebi, M
      MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

      JOURNAL OF CLINICAL INVESTIGATION
    9. Freson, K; Devriendt, K; Matthijs, G; Van Hoof, A; De Vos, R; Thys, C; Minner, K; Hoylaerts, MF; Vermylen, J; Van Geet, C
      Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation

      BLOOD
    10. Hendriksz, CJ; McClean, P; Henderson, MJ; Keir, DG; Worthington, VC; Imtiaz, F; Schollen, E; Matthijs, G; Winchester, BG
      Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose

      ARCHIVES OF DISEASE IN CHILDHOOD
    11. de Ravel, TJL; Matthijs, G; Fryns, JP
      An unbalanced translocation 46,XX,+der(18)t(18;21)(q12.2;q11.2)mat,-21 associated with maternal isodisomy 18pter -> 18q12.2

      ANNALES DE GENETIQUE
    12. Grunewald, S; Schollen, E; Van Schaftingen, E; Jaeken, J; Matthijs, G
      High residual activity of PMM2 in patients' fibroblasts: Possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency)

      AMERICAN JOURNAL OF HUMAN GENETICS
    13. Matthijs, G; Schollen, E; Bjursell, C; Erlandson, A; Freeze, H; Imtiaz, F; Kjaergaard, S; Martinsson, T; Schwartz, M; Seta, N; Vuillaumier-Barrot, S; Westphal, V; Winchester, B
      Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

      HUMAN MUTATION
    14. Schollen, E; Dorland, L; de Koning, TJ; Van Diggelen, OP; Huijmans, JGM; Marquardt, T; Babovic-Vuksanovic, D; Patterson, M; Imtiaz, F; Winchester, B; Adamowicz, M; Pronicka, E; Freeze, H; Matthijs, G
      Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)

      HUMAN MUTATION
    15. Gerard, B; Ginet, N; Matthijs, G; Evrard, P; Baumann, C; Da Silva, F; Gerard-Blanluet, M; Mayer, M; Grandchamp, B; Elion, J
      Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension

      HUMAN MUTATION
    16. Schollen, E; Kjaergaard, S; Legius, E; Schwartz, M; Matthijs, G
      Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation inCDG-Ia (congenital disorders of glycosylation type Ia)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    17. Matthijs, G
      Congenital disorders of glycosylation

      TRENDS IN BIOCHEMICAL SCIENCES
    18. Aebi, M; Helenius, A; Schenk, B; Barone, R; Fiumara, A; Berger, EG; Hennet, T; Imbach, T; Stutz, A; Bjursell, C; Uller, A; Wahlstrom, JG; Briones, P; Cardo, E; Clayton, P; Winchester, B; Cormier-Daire, V; de Lonlay, P; Cuer, M; Dupre, T; Seta, N; de Koning, T; Dorland, L; de Loos, F; Kupers, L; Fabritz, L; Hasilik, M; Marquardt, T; Niehues, R; Freeze, H; Grunewald, S; Heykants, L; Jaeken, J; Matthijs, G; Schollen, E; Keir, G; Kjaergaard, S; Schwartz, M; Skovby, F; Klein, A; Roussel, P; Korner, C; Lubke, T; Thiel, C; von Figura, K; Koscielak, J; Krasnewich, D; Lehle, L; Peters, V; Raab, M; Saether, O; Schachter, H; Van Schaftingen, E; Verbert, A; Vilaseca, A; Wevers, R; Yamashita, K
      Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG

      GLYCOBIOLOGY
    19. Grunewald, S; Imbach, T; Huijben, K; Rubio-Gozalbo, ME; Verrips, A; de Klerk, JBC; Stroink, H; Andel, JFD; Van Hove, JLK; Wendel, U; Matthijs, G; Hennet, T; Jaeken, J; Wevers, RA
      Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis

      ANNALS OF NEUROLOGY
    20. Imbach, T; Grunewald, S; Schenk, B; Burda, P; Schollen, E; Wevers, RA; Jaeken, J; de Klerk, JBC; Berger, EG; Matthijs, G; Aebi, M; Hennet, T
      Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

      HUMAN GENETICS
    21. Hes, F; Zewald, R; Peeters, T; Sijmons, R; Links, T; Verheij, J; Matthijs, G; Legius, E; Mortier, G; van der Torren, K; Rosman, M; Lips, C; Pearson, P; van der Luijt, R
      Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene

      HUMAN GENETICS
    22. Potgieter, S; Matthijs, G; De Cock, P; Fryns, JP
      Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7

      EUROPEAN JOURNAL OF PEDIATRICS
    23. Thijs, V; Peeters, E; Theys, P; Matthijs, G; Robberecht, W
      Demographic characteristics and prognosis in a Flemish Amyotrophic LateralSclerosis population

      ACTA NEUROLOGICA BELGICA
    24. Grunewald, S; Matthijs, G
      Congenital Disorders of Glycosylation (CDG): A rapidly expanding group of neurometabolic disorders

      NEUROPEDIATRICS
    25. Frazier, RA; Matthijs, G; Davies, MC; Roberts, CJ; Schacht, E; Tendler, SJB
      Characterization of protein-resistant dextran monolayers

      BIOMATERIALS
    26. Fletcher, JM; Matthijs, G; Jaeken, J; Van Schaftingen, E; Nelson, PV
      Carbohydrate-deficient glycoprotein syndrome: Beyond the screen

      JOURNAL OF INHERITED METABOLIC DISEASE
    27. Imbach, T; Schenk, B; Schollen, E; Burda, P; Stutz, A; Grunewald, S; Bailie, NM; King, MD; Jaeken, J; Matthijs, G; Berger, EG; Aebi, M; Hennet, T
      Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

      JOURNAL OF CLINICAL INVESTIGATION
    28. Jamieson, CR; Fryns, JP; Jacobs, J; Matthijs, G; Abramowicz, MJ
      Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32

      AMERICAN JOURNAL OF HUMAN GENETICS
    29. Matthijs, G; Schollen, E; Heykants, L; Grunewald, S
      Phosphomannomutase deficiency: The molecular basis of the classical Jaekensyndrome (CDGS type Ia)

      MOLECULAR GENETICS AND METABOLISM
    30. Vansteenkiste, S; Matthijs, G; Schacht, E; De Schrijver, F; Van Damme, M; Vermeersch, J
      Synthesis and radical polymerization of pyrocarbonate-functionalized monomers: application to positive-tone photoresists

      MACROMOLECULAR RAPID COMMUNICATIONS
    31. Aguirre, T; Matthijs, G; Robberecht, W; Tilkin, P; Cassiman, JJ
      Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium

      EUROPEAN JOURNAL OF HUMAN GENETICS
    32. Carchon, H; Van Schaftingen, E; Matthijs, G; Jaeken, J
      Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency)

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    33. Pirard, M; Achouri, Y; Collet, JF; Schollen, E; Matthijs, G; Van Schaftingen, E
      Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes

      BIOCHEMICAL JOURNAL
    34. GONCALVES AM; SCHACHT E; MATTHIJS G; BARROS MRA; CABRAL JMS; GIL MH
      STABILITY STUDIES OF A RECOMBINANT CUTINASE IMMOBILIZED TO DEXTRAN AND DERIVATIZED SILICA SUPPORTS

      Enzyme and microbial technology
    35. Simoni, M; Bakker, E; Eurlings, MCM; Matthijs, G; Moro, E; Muller, CR; Vogt, PH
      Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions

      INTERNATIONAL JOURNAL OF ANDROLOGY
    36. Vansteenkiste, S; Matthijs, G; Schacht, E; De Schrijver, FC; Van Damme, M; Vermeersch, J
      Preparation of tailor-made multifunctional propenyl ethers by radical copolymerization of 2-(1-propenyl)oxyethyl methacrylate

      MACROMOLECULES
    37. Devriendt, K; Matthijs, G; Holvoet, M; Schoenmakers, E; Fryns, JP
      Triplication of distal chromosome 10q

      JOURNAL OF MEDICAL GENETICS
    38. Pirard, M; Matthijs, G; Heykants, L; Schollen, E; Grunewald, S; Jaeken, J; van Schaftingen, E
      Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2

      FEBS LETTERS
    39. Legius, E; Vanderschueren, D; Spiessens, C; D'Hooghe, T; Matthijs, G
      Association between CAG repeat number in the androgen receptor and male infertility in a Belgian study

      CLINICAL GENETICS
    40. Devriendt, K; Jaeken, J; Matthijs, G; Van Esch, H; Debeer, P; Gewillig, M; Fryns, JP
      Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent ductusbotalli

      AMERICAN JOURNAL OF HUMAN GENETICS
    41. Devriendt, K; Matthijs, G; Van Dael, R; Gewillig, M; Eyskens, B; Hjalgrim, H; Dolmer, B; McGaughran, J; Brondum-Nielsen, K; Marynen, P; Fryns, JP; Vermeesch, JR
      Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1

      AMERICAN JOURNAL OF HUMAN GENETICS
    42. PINGAULT V; BONDURAND N; KUHLBRODT K; GOERICH DE; PREHU MO; PULITI A; HERBARTH B; HERMANSBORGMEYER I; LEGIUS E; MATTHIJS G; AMIEL J; LYONNET S; CECCHERINI I; ROMEO G; SMITH JC; READ AP; WEGNER M; GOOSSENS M
      SOX10 MUTATIONS IN PATIENTS WITH WAARDENBURG-HIRSCHSPRUNG-DISEASE

      Nature genetics
    43. FRESON K; PEERLINCK K; AGUIRRE T; ARNOUT J; VERMYLEN J; CASSIMAN JJ; MATTHIJS G
      FLUORESCENT CHEMICAL CLEAVAGE OF MISMATCHES FOR EFFICIENT SCREENING OF THE FACTOR-VIII GENE

      Human mutation
    44. MATTHIJS G; SCHOLLEN E; CASSIMAN JJ; CORMIERDAIRE V; JAEKEN J; VANSCHAFTINGEN E
      PRENATAL-DIAGNOSIS IN CDG1 FAMILIES - BEWARE OF HETEROGENEITY

      European journal of human genetics
    45. LEGIUS E; SCHOLLEN E; MATTHIJS G; FRYNS JP
      FINE MAPPING OF NOONAN CARDIO-FACIO-CUTANEOUS-SYNDROME IN A LARGE FAMILY/

      European journal of human genetics
    46. PINGAULT V; BONDURAND N; KUHLBRODT K; GOERICH DE; PREHU MO; PULITI A; LEMORT N; LEGIUS E; MATTHIJS G; AMIEL J; LYONNET S; CECCHERINI I; ROMEO G; CLAYTONSMITH J; READ AP; WEGNER M; GOOSSENS M
      MUTATIONS OF THE SOX10 GENE IN WAARDENBURG-HIRSCHSPRUNG-DISEASE

      European journal of human genetics
    47. VANTINTELEN P; MATTHIJS G; BRAAM W; CASSIMAN JJ; DURAN M; POLLTHE BT
      HOMOZYGOSITY FOR THE F119L MUTATION IN THE PMM2 GENE IN AN ADULT WITHCDG SYNDROME TYPE IA

      European journal of human genetics
    48. MATTHIJS G; SCHOLLEN E; SAUDUBRAY JM; DELONLAY P; DIONISIVICI C; BERTINI E; HENRI H; CASSIMAN JJ; JAEKEN J; VANSCHAFTINGEN E
      IDENTIFICATION OF THE GENETIC-DEFECT IN A VARIANT OF CDG SYNDROME TYPE-I - MUTATIONS IN THE PMI GENE RESULT IN A SEVERE, BUT POTENTIALLY TREATABLE DISORDER

      European journal of human genetics
    49. Bjursell, C; Wahlstrom, J; Berg, K; Stibler, H; Kristiansson, B; Matthijs, G; Martinsson, T
      Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families

      EUROPEAN JOURNAL OF HUMAN GENETICS
    50. SCHOLLEN E; PARDON E; HEYKANTS L; RENARD J; DOGGETT NA; CALLEN DF; CASSIMAN JJ; MATTHIJS G
      COMPARATIVE-ANALYSIS OF THE PHOSPHOMANNOMUTASE GENES PMM1, PMM2 AND PMM2-PSI - THE SEQUENCE VARIATION IN THE PROCESSED PSEUDOGENE IS A REFLECTION OF THE MUTATIONS FOUND IN THE FUNCTIONAL GENE

      Human molecular genetics
    51. Al-Chalabi, A; Andersen, PM; Chioza, B; Shaw, C; Sham, PC; Robberecht, W; Matthijs, G; Camu, V; Marklund, SL; Forsgren, L; Rouleau, G; Laing, NG; Hurse, PV; Siddique, T; Leigh, PN; Powell, JF
      Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor

      HUMAN MOLECULAR GENETICS
    52. MATTHIJS G; GRUENEWALD S; SCHOLLEN E; HEYKANTS L; PIRARD M; VANSCHAFTINGEN E
      THE PHOSPHOMANNOMUTASES IN HUMAN AND MOUSE - GENE STRUCTURE, EXPRESSION PATTERN AND ROLE IN DISEASE

      Glycobiology
    53. DEVRIENDT K; MATTHIJS G; VANDAMME B; VANCAESBROECK D; ECCLES M; VANRENTERGHEM Y; FRYNS JP; LEYS A
      MISSENSE MUTATION AND HEXANUCLEOTIDE DUPLICATION IN THE PAX2 GENE IN 2 UNRELATED FAMILIES WITH RENAL-COLOBOMA SYNDROME (MIM-120330)

      Human genetics
    54. MATTHIJS G; DEVRIENDT K; FRYNS JP
      THE PRENATAL-DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY

      Prenatal diagnosis
    55. DEVRIENDT K; VANHOLE C; MATTHIJS G; DEZEGHER F
      DELETION OF THYROID TRANSCRIPTION FACTOR-I GENE IN AN INFANT WITH NEONATAL THYROID-DYSFUNCTION AND RESPIRATORY-FAILURE

      The New England journal of medicine
    56. KNIGHT SW; VULLIAMY TJ; HEISS NS; MATTHIJS G; DEVRIENDT K; CONNOR JM; DURSO M; POUSTKA A; MASON PJ; DOKAL I
      1.4 MB CANDIDATE GENE REGION FOR X-LINKED DYSKERATOSIS-CONGENITA DEFINED BY COMBINED HAPLOTYPE AND X-CHROMOSOME INACTIVATION ANALYSIS

      Journal of Medical Genetics
    57. BUITING K; DITTRICH B; GROSS S; LICH C; FARBER C; BUCHHOLZ T; SMITH E; REIS A; BURGER J; NOTHEN MM; BARTHWITTE U; JANSSEN B; ABELIOVICH D; LERER I; VANDENOUWELAND AMW; HALLEY DJJ; SCHRANDERSTUMPEL C; SMEETS H; MEINECKE P; MALCOLM S; GARDNER A; LALANDE M; NICHOLLS RD; FRIEND K; SCHULZE A; MATTHIJS G; KOKKONEN H; HILBERT P; VANMALDERGEM L; GLOVER G; CARBONELL P; WILLEMS P; GILLESSENKAESBACH G; HORSTHEMKE B
      SPORADIC IMPRINTING DEFECTS IN PRADER-WILLI-SYNDROME AND ANGELMAN-SYNDROME - IMPLICATIONS FOR IMPRINT-SWITCH MODELS, GENETIC-COUNSELING, AND PRENATAL-DIAGNOSIS

      American journal of human genetics
    58. JAEKEN J; MATTHIJS G; SAUDUBRAY JM; DIONISIVICI C; BERTINI E; DELONLAY P; HENRI H; CARCHON H; SCHOLLEN E; VANSCHAFTINGEN E
      PHOSPHOMANNOSE ISOMERASE DEFICIENCY - A CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH HEPATIC-INTESTINAL PRESENTATION

      American journal of human genetics
    59. MATTHIJS G; SCHOLLEN E; VANSCHAFTINGEN E; CASSIMAN JJ; JAEKEN J
      LACK OF HOMOZYGOTES FOR THE MOST FREQUENT DISEASE ALLELE IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE 1A

      American journal of human genetics
    60. MATTHIJS G
      MUTATIONS IN PMM2, A PHOSPHOMANNOMUTASE GENE ON CHROMOSOME 16P13, IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN TYPE-I SYNDROME (JAEKEN-SYNDROME) (VOL 16, PG 88, 1997)

      Nature genetics
    61. MATTHIJS G; SCHOLLEN E; PARDON E; VEIGADACUNHA M; JAEKEN J; CASSIMAN JJ; VANSCHAFTINGEN E
      MUTATIONS IN PMM2, A PHOSPHOMANNOMUTASE GENE ON CHROMOSOME 16P13, IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN TYPE-I SYNDROME (JAEKEN-SYNDROME)

      Nature genetics
    62. KROISEL PM; FRYNS JP; MATTHIJS G; BRONDUMNIELSEN K; VEJERSLEV L; VONKOSKULL H; GIRAUDON E; SAURA R; HELD K; MULLERREIBLE CR; METAXOTOU C; GENUARDI M; PIOMBO G; SCHNEIDER F; SMEETS D; VANDENOUWELAND A; PACHECO P; CORREIA H; BINKERT F; GABARRON J; GALLANO P; KRISTOFFERSSON U; ANVRET M; HOWELL R; STENHOUSE S
      QUALITY GUIDELINES AND STANDARDS FOR GENETIC LABORATORIES CLINICS IN PRENATAL-DIAGNOSIS ON FETAL SAMPLES OBTAINED BY INVASIVE PROCEDURES - AN ATTEMPT TO ESTABLISH A COMMON EUROPEAN FRAMEWORK FOR QUALITY ASSESSMENT/

      European journal of human genetics
    63. MATTHIJS G; SCHOLLEN E; PIRARD M; BUDARF ML; VANSCHAFTINGEN E; CASSIMAN JJ
      PMM (PMM1), THE HUMAN HOMOLOG OF SEC53 OR YEAST PHOSPHOMANNOMUTASE, IS LOCALIZED ON CHROMOSOME 22Q13

      Genomics
    64. FRAZIER RA; DAVIES MC; MATTHIJS G; ROBERTS CJ; SCHACHT E; TENDLER SJB; WILLIAMS PM
      IN-SITU SURFACE-PLASMON RESONANCE ANALYSIS OF DEXTRAN MONOLAYER DEGRADATION BY DEXTRANASE

      Langmuir
    65. FRAZIER RA; DAVIES MC; MATTHIJS G; ROBERTS CJ; SCHACHT E; TENDLER SJB; WILLIAMS PM
      HIGH-RESOLUTION ATOMIC-FORCE MICROSCOPY OF DEXTRAN MONOLAYER HYDRATION

      Langmuir
    66. LAMMENS M; DEVRIENDT K; MATTHIJS G; SCHOLLEN E; VANHOLE C; DEVLIEGER H; FRIJNS JP; DOM R
      COMPLEX GENOMIC REARRANGEMENT IN THE SMA-REGION ON CHROMOSOME 5Q13 INA PATIENT WITH SEVERE CONGENITAL WERDNIG-HOFFMANN DISEASE

      Acta neurologica belgica
    67. DEVRIENDT K; PETIT P; MATTHIJS G; VERMEESCH JR; HOLVOET M; DEMUELENAERE A; MARYNEN P; CASSIMAN JJ; FRYNS JP
      TRISOMY-15 RESCUE WITH JUMPING TRANSLOCATION OF DISTAL 15Q IN PRADER-WILLI-SYNDROME

      Journal of Medical Genetics
    68. DEVRIENDT K; MATTHIJS G; CLAES S; LEGIUS E; PROESMANS W; CASSIMAN JJ; FRYNS JP
      PRADER-WILLI-SYNDROME IN A CHILD WITH MOSAIC TRISOMY-15 AND MOSAIC TRIPLO-X - A MOLECULAR ANALYSIS

      Journal of Medical Genetics
    69. JAEKEN J; MATTHIJS G; BARONE R; CARCHON H
      CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME TYPE-I

      Journal of Medical Genetics
    70. PIRARD M; COLLET JF; MATTHIJS G; VANSCHAFTINGEN E
      COMPARISON OF PMM1 WITH THE PHOSPHOMANNOMUTASES EXPRESSED IN RAT-LIVER AND IN HUMAN-CELLS

      FEBS letters
    71. SCHOLLEN E; VANDENBERK P; CASSIMAN JJ; MATTHIJS G
      DEVELOPMENT OF REVERSE DOT-BLOT SYSTEM FOR SCREENING OF MITOCHONDRIAL-DNA MUTATIONS ASSOCIATED WITH LEBER HEREDITARY OPTIC ATROPHY

      Clinical chemistry
    72. ROBBERECHT W; AGUIRRE T; VANDENBOSCH L; THEYS P; NEES H; CASSIMAN JJ; MATTHIJS G
      FAMILIAL JUVENILE FOCAL AMYOTROPHY OF THE UPPER EXTREMITY (HIRAYAMA DISEASE) - SUPEROXIDE-DISMUTASE-1 GENOTYPE AND ACTIVITY

      Archives of neurology
    73. DEVRIENDT K; NAULAERS G; MATTHIJS G; VANHOUDT K; DEVLIEGER H; GEWILLIG M
      AGENESIS OF CORPUS-CALLOSUM AND ANOPHTHALMIA IN THE ASPLENIA SYNDROME- A RECOGNIZABLE ASSOCIATION

      Annales de genetique
    74. MATTHIJS G; SCHOLLEN E; JAEKEN J; VANSCHAFTINGEN E; CASSIMAN JJ
      EXHAUSTIVE MUTATION ANALYSIS OF THE PMM2 GENE IN PATIENTS WITH THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I (CDG1 OR JAEKEN-SYNDROME) AND CLONING OF THE MOUSE PMM1 AND PMM2 GENES

      American journal of human genetics
    75. BJURSELL C; WAHLSTROM J; STIBLER H; KRISTIANSSON B; MATTHIJS G; MARTINSSON T
      PRENATAL DIAGNOSTIC-TOOLS FOR ANALYSIS OF SCANDINAVIAN CDG TYPE-I PATIENTS

      American journal of human genetics
    76. AGUIRRE T; VANDENBOSCH L; MATTHIJS G; CASSIMAN JJ; ROBBERECHT W
      SENSITIVITY TO OXIDATIVE STRESS OF FIBROBLASTS FROM PATIENTS FROM FAMILIAL AND SPORADIC AMYOTROPHIC-LATERAL-SCLEROSIS

      American journal of human genetics
    77. DEVRIENDT K; MATTHIJS G; LEGIUS E; SCHOLLEN E; BLOCKMANS D; VANGEET C; DEGREEF H; CASSIMAN JJ; FRYNS JP
      SKEWED X-CHROMOSOME INACTIVATION IN FEMALE CARRIERS OF DYSKERATOSIS-CONGENITA

      American journal of human genetics
    78. MATTHIJS G; CLAES S; LONGOMBENZA B; CASSIMAN JJ
      NON-SYNDROMIC DEAFNESS ASSOCIATED WITH A MUTATION AND A POLYMORPHISM IN THE MITOCHONDRIAL 12S RIBOSOMAL-RNA GENE IN A LARGE ZAIREAN PEDIGREE

      European journal of human genetics
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      Blood
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ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/10/20 alle ore 10:48:41