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Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

American journal of human genetics, 1994-05, Vol.54 (5), p.741-747

1994

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Application of linkage analysis to genetic counselling in families with hereditary retinoblastoma

Journal of medical genetics, 1988-04, Vol.25 (4), p.217-221

1988

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Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient

Human molecular genetics, 1993-07, Vol.2 (7), p.921-924

1993

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Somatic mosaicism in a patient with bilateral retinoblastoma

American journal of human genetics, 1990-06, Vol.46 (6), p.1187-1193

1990

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Possible involvement of the retinoblastoma gene in undifferentiated sinonasal carcinoma

Cancer, 1990-11, Vol.66 (9), p.1954-1959

1990

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Detection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locus

Human genetics, 1987-07, Vol.76 (3), p.257-261

1987

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Early diagnosis in hereditary retinoblastoma by detection of molecular deletions at gene locus

The Lancet (British edition), 1987-02, Vol.1 (8531), p.511-512

1987

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Effect of Spinal Cord Burst Stimulation vs Placebo Stimulation on Disability in Patients With Chronic Radicular Pain After Lumbar Spine Surgery: A Randomized Clinical Trial

JAMA : the journal of the American Medical Association, 2022-10, Vol.328 (15), p.1506

2022

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Minimally invasive decompression versus open laminectomy for central stenosis of the lumbar spine: pragmatic comparative effectiveness study

BMJ (Online), 2015-04, Vol.350 (apr01 1), p.h1603-h1603

2015

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Gastrointestinal neuromuscular pathology: guidelines for histological techniques and reporting on behalf of the Gastro 2009 International Working Group

Acta neuropathologica, 2009-08, Vol.118 (2), p.271-301

2009

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An anti-PF4 antibody-related disorder with cerebral venous sinus thrombosis and thrombocytopenia initially presenting as intracranial hemorrhage

Journal of neurology, 2024-07, Vol.271 (7), p.4651-4654

2024

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Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts

Gut, 2015, Vol.64 (11), p.1774-1782

2015

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Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction

Gastroenterology (New York, N.Y. 1943), 2015-04, Vol.148 (4), p.771-782.e11

2015

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Bloody nipple discharge in an infant and a proposed diagnostic approach

Pediatrics (Evanston), 2006-04, Vol.117 (4), p.e814-e816

2006

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Vitamin K deficiency from dietary vitamin K restriction in humans

The American journal of clinical nutrition, 1988-03, Vol.47 (3), p.475-480

1988

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Positive postoperative donor-specific crossmatch correlates with B-cell infiltration and poor graft prognosis

Transplantation proceedings, 1990-08, Vol.22 (4), p.1900-1902

1990

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Phosphaturic effect of furosemide: role of PTH and carbonic anhydrase

American journal of physiology. Renal physiology, 1977-02, Vol.232 (2), p.105-F110

1977

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Course studies on cerebral glutamine excretion in schizophrenics under treatment with tranquilizing agents

Psychiatria clinica, 1973, Vol.6 (5), p.288

1973

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Experiences with cerebrospinal fluid cell diagnosis, An analysis of about 5000 cytological examinations. II. Cell picture in inflammatory brain and spinal cord diseases, after brain damage in early childhood, in degenerative diseases of the central nervous system, epilepsy and endogenous psychoses

Psychiatria et neurologia, 1965, Vol.150 (2), p.104

1965

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Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

Application of linkage analysis to genetic counselling in families with hereditary retinoblastoma

Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient

Somatic mosaicism in a patient with bilateral retinoblastoma

Possible involvement of the retinoblastoma gene in undifferentiated sinonasal carcinoma

Detection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locus

Early diagnosis in hereditary retinoblastoma by detection of molecular deletions at gene locus

Effect of Spinal Cord Burst Stimulation vs Placebo Stimulation on Disability in Patients With Chronic Radicular Pain After Lumbar Spine Surgery: A Randomized Clinical Trial

Minimally invasive decompression versus open laminectomy for central stenosis of the lumbar spine: pragmatic comparative effectiveness study

Gastrointestinal neuromuscular pathology: guidelines for histological techniques and reporting on behalf of the Gastro 2009 International Working Group

An anti-PF4 antibody-related disorder with cerebral venous sinus thrombosis and thrombocytopenia initially presenting as intracranial hemorrhage

Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts

Low-dose budesonide for maintenance of clinical remission in collagenous colitis: a randomised, placebo-controlled, 12-month trial

Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction

Bloody nipple discharge in an infant and a proposed diagnostic approach

Vitamin K deficiency from dietary vitamin K restriction in humans

Positive postoperative donor-specific crossmatch correlates with B-cell infiltration and poor graft prognosis

Phosphaturic effect of furosemide: role of PTH and carbonic anhydrase

Course studies on cerebral glutamine excretion in schizophrenics under treatment with tranquilizing agents

Experiences with cerebrospinal fluid cell diagnosis, An analysis of about 5000 cytological examinations. II. Cell picture in inflammatory brain and spinal cord diseases, after brain damage in early childhood, in degenerative diseases of the central nervous system, epilepsy and endogenous psychoses

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