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1
Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
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Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

Nature genetics, 1994-12, Vol.8 (4), p.345-351 [Peer Reviewed Journal]

1995 INIST-CNRS ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng1294-345 ;PMID: 7894484 ;CODEN: NGENEC

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2
Mechanisms of Disease: Maternal and Fetal Thyroid Function
Mechanisms of Disease: Maternal and Fetal Thyroid Function
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Mechanisms of Disease: Maternal and Fetal Thyroid Function

The New England journal of medicine, 1994-10, Vol.331 (16), p.1072 [Peer Reviewed Journal]

Copyright © 1994 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199410203311608

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3
Differential induction of transcriptionally active p53 following UV or ionizing radiation : defects in chromosome instability syndromes ?
Differential induction of transcriptionally active p53 following UV or ionizing radiation : defects in chromosome instability syndromes ?
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Differential induction of transcriptionally active p53 following UV or ionizing radiation : defects in chromosome instability syndromes ?

Cell, 1993-11, Vol.75 (4), p.765-778 [Peer Reviewed Journal]

1994 INIST-CNRS ;ISSN: 0092-8674 ;EISSN: 1097-4172 ;DOI: 10.1016/0092-8674(93)90496-D ;PMID: 8242748 ;CODEN: CELLB5

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4
Down Syndrome Phenotypes: The Consequences of Chromosomal Imbalance
Down Syndrome Phenotypes: The Consequences of Chromosomal Imbalance
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Down Syndrome Phenotypes: The Consequences of Chromosomal Imbalance

Proceedings of the National Academy of Sciences - PNAS, 1994-05, Vol.91 (11), p.4997-5001 [Peer Reviewed Journal]

Copyright 1994 The National Academy of Sciences of the United States of America ;ISSN: 0027-8424 ;EISSN: 1091-6490 ;DOI: 10.1073/pnas.91.11.4997 ;PMID: 8197171

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5
Specific UV-Induced Mutation Spectrum in the p53 Gene of Skin Tumors from DNA-Repair-Deficient Xeroderma Pigmentosum Patients
Specific UV-Induced Mutation Spectrum in the p53 Gene of Skin Tumors from DNA-Repair-Deficient Xeroderma Pigmentosum Patients
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Specific UV-Induced Mutation Spectrum in the p53 Gene of Skin Tumors from DNA-Repair-Deficient Xeroderma Pigmentosum Patients

Proceedings of the National Academy of Sciences - PNAS, 1993-11, Vol.90 (22), p.10529-10533 [Peer Reviewed Journal]

Copyright 1993 National Academy of Sciences of the United States of America ;1994 INIST-CNRS ;Copyright National Academy of Sciences Nov 15, 1993 ;ISSN: 0027-8424 ;EISSN: 1091-6490 ;DOI: 10.1073/pnas.90.22.10529 ;PMID: 8248141 ;CODEN: PNASA6

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6
Neonatal Serologic Screening and Early Treatment for Congenital Toxoplasma gondii Infection
Neonatal Serologic Screening and Early Treatment for Congenital Toxoplasma gondii Infection
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Neonatal Serologic Screening and Early Treatment for Congenital Toxoplasma gondii Infection

The New England journal of medicine, 1994-06, Vol.330 (26), p.1858-1863 [Peer Reviewed Journal]

Copyright © 1994 Massachusetts Medical Society. All rights reserved. ;1994 INIST-CNRS ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199406303302604 ;CODEN: NEJMAG

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7
Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis
Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis
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Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis

The New England journal of medicine, 1993-10, Vol.329 (18), p.1308-1313 [Peer Reviewed Journal]

Copyright © 1993 Massachusetts Medical Society. All rights reserved. ;1994 INIST-CNRS ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199310283291804 ;PMID: 8166795 ;CODEN: NEJMAG

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8
Analysis of 462 Transplantations from Unrelated Donors Facilitated by the National Marrow Donor Program
Analysis of 462 Transplantations from Unrelated Donors Facilitated by the National Marrow Donor Program
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Analysis of 462 Transplantations from Unrelated Donors Facilitated by the National Marrow Donor Program

The New England journal of medicine, 1993-03, Vol.328 (9), p.593-602 [Peer Reviewed Journal]

Copyright © 1993 Massachusetts Medical Society. All rights reserved. ;1993 INIST-CNRS ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199303043280901 ;PMID: 8429851 ;CODEN: NEJMAG

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9
Loss of telomeric DNA during aging of normal and trisomy 21 human lymphocytes
Loss of telomeric DNA during aging of normal and trisomy 21 human lymphocytes
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Loss of telomeric DNA during aging of normal and trisomy 21 human lymphocytes

American journal of human genetics, 1993-04, Vol.52 (4), p.661-667 [Peer Reviewed Journal]

1993 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 8460632 ;CODEN: AJHGAG

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10
Brief report : deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis
Brief report : deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis
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Brief report : deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis

The New England journal of medicine, 1993-02, Vol.328 (6), p.406-410 [Peer Reviewed Journal]

1993 INIST-CNRS ;Copyright © 1993 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199302113280606 ;PMID: 8421459 ;CODEN: NEJMAG

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11
Medical Progress: Hereditary Gastrointestinal Polyposis and Nonpolyposis Syndromes
Medical Progress: Hereditary Gastrointestinal Polyposis and Nonpolyposis Syndromes
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Medical Progress: Hereditary Gastrointestinal Polyposis and Nonpolyposis Syndromes

The New England journal of medicine, 1994-12, Vol.331 (25), p.1694 [Peer Reviewed Journal]

Copyright © 1994 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199412223312507 ;CODEN: NEJMAG

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12
Neonatal Complications after the Administration of Indomethacin for Preterm Labor
Neonatal Complications after the Administration of Indomethacin for Preterm Labor
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Neonatal Complications after the Administration of Indomethacin for Preterm Labor

The New England journal of medicine, 1993-11, Vol.329 (22), p.1602-1607 [Peer Reviewed Journal]

Copyright © 1993 Massachusetts Medical Society. All rights reserved. ;1994 INIST-CNRS ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199311253292202 ;PMID: 8232428 ;CODEN: NEJMAG

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13
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
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Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy

American journal of human genetics, 1993-06, Vol.52 (6), p.1164-1174 [Peer Reviewed Journal]

1993 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 8503448 ;CODEN: AJHGAG

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14
Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3
Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3
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Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3

American journal of human genetics, 1994-02, Vol.54 (2), p.191-200 [Peer Reviewed Journal]

1994 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 8304337 ;CODEN: AJHGAG

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15
Genetic Linkage of the Marfan Syndrome, Ectopia Lentis, and Congenital Contractural Arachnodactyly to the Fibrillin Genes on Chromosomes 15 and 5
Genetic Linkage of the Marfan Syndrome, Ectopia Lentis, and Congenital Contractural Arachnodactyly to the Fibrillin Genes on Chromosomes 15 and 5
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Genetic Linkage of the Marfan Syndrome, Ectopia Lentis, and Congenital Contractural Arachnodactyly to the Fibrillin Genes on Chromosomes 15 and 5

The New England journal of medicine, 1992-04, Vol.326 (14), p.905-909 [Peer Reviewed Journal]

Copyright Massachusetts Medical Society Apr 2, 1992 ;Copyright Massachusetts Medical Society, Publishing Division Apr 2, 1992 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199204023261401 ;CODEN: NEJMAG

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16
Long-Term Outcome after Surgical Repair of Isolated Atrial Septal Defect: Follow-up at 27 to 32 Years
Long-Term Outcome after Surgical Repair of Isolated Atrial Septal Defect: Follow-up at 27 to 32 Years
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Long-Term Outcome after Surgical Repair of Isolated Atrial Septal Defect: Follow-up at 27 to 32 Years

The New England journal of medicine, 1990-12, Vol.323 (24), p.1645-1650 [Peer Reviewed Journal]

1993 INIST-CNRS ;Copyright Massachusetts Medical Society Dec 13, 1990 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199012133232401 ;PMID: 2233961 ;CODEN: NEJMAG

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17
Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa : a consensus report by the Subcommittee on diagnosis and classification of the national epidermolysis bullosa registry
Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa : a consensus report by the Subcommittee on diagnosis and classification of the national epidermolysis bullosa registry
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Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa : a consensus report by the Subcommittee on diagnosis and classification of the national epidermolysis bullosa registry

Journal of the American Academy of Dermatology, 1991, Vol.24 (1), p.119-135 [Peer Reviewed Journal]

1991 INIST-CNRS ;ISSN: 0190-9622 ;EISSN: 1097-6787 ;DOI: 10.1016/0190-9622(91)70021-S ;PMID: 1999509 ;CODEN: JAADDB

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18
Mechanisms of Disease: Disorders of Aldosterone Biosynthesis and Action
Mechanisms of Disease: Disorders of Aldosterone Biosynthesis and Action
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Mechanisms of Disease: Disorders of Aldosterone Biosynthesis and Action

The New England journal of medicine, 1994-07, Vol.331 (4), p.250 [Peer Reviewed Journal]

Copyright © 1994 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199407283310408

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19
A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering
A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering
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A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

Nature (London), 1992-03, Vol.356 (6366), p.244-246 [Peer Reviewed Journal]

1992 INIST-CNRS ;Copyright Macmillan Journals Ltd. Mar 19, 1992 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/356244a0 ;PMID: 1372711 ;CODEN: NATUAS

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20
Neurocutaneous melanosis: Definition and review of the literature
Neurocutaneous melanosis: Definition and review of the literature
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Neurocutaneous melanosis: Definition and review of the literature

Journal of the American Academy of Dermatology, 1991-05, Vol.24 (5), p.747-755 [Peer Reviewed Journal]

1991 American Academy of Dermatology, Inc. ;1991 INIST-CNRS ;ISSN: 0190-9622 ;EISSN: 1097-6787 ;DOI: 10.1016/0190-9622(91)70115-I ;PMID: 1869648 ;CODEN: JAADDB

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