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SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum

Clinical genetics, 2015-10, Vol.88 (4), p.327-335

2015

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Behavior of biometric parameters during clinical hours

Journal francais d'ophtalmologie, 2024-11, Vol.47 (9), p.104296, Article 104296

2024

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A role for TENM1 mutations in congenital general anosmia

Clinical genetics, 2016-09, Vol.90 (3), p.211-219

2016

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Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin

European journal of paediatric neurology, 2018-01, Vol.22 (1), p.93-101

2018

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OP0087 Increased risk of ischaemic heart disease and mortality among fmf patients – perspective from a big database

Annals of the rheumatic diseases, 2018-06, Vol.77 (Suppl 2), p.94

2018

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Effects of the combined administration of propranolol plus sorafenib on portal hypertension in cirrhotic rats

American journal of physiology: Gastrointestinal and liver physiology, 2012-05, Vol.302 (10), p.G1191-G1198

2012

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Fractures after multimodality treatment of soft tissue sarcomas with isolated limb perfusion and radiation; likely to occur and hard to heal

European journal of surgical oncology, 2018-09, Vol.44 (9), p.1398-1405

2018

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Chromosomal microarray analysis of miscarriage products in recurrent pregnancy loss

Fertility and sterility, 2016-09, Vol.106 (3), p.e374-e374

2016

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Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

Cell, 1997-08, Vol.90 (4), p.797-807

1997

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Decreased Expression of Thrombospondin-1 in Failing Hearts May Favor Ventricular Remodeling

Transplantation proceedings, 2009-07, Vol.41 (6), p.2231-2233

2009

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A Nonsense Mutation (W9X) in CRYAA Causes Autosomal Recessive Cataract in an Inbred Jewish Persian Family

Investigative ophthalmology & visual science, 2000-10, Vol.41 (11), p.3511-3515

2000

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Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome

Clinical genetics, 2015-06, Vol.87 (6), p.602-603

2015

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Very Early In-Utero Diagnosis of Walker-Warburg Phenotype: The Cutting Edge of Technology

Ultrasound international open, 2016-05, Vol.2 (2), p.E54-E57

2016

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Hepatic Iron Overload following Liver Transplantation from a C282Y/H63D Compound Heterozygous Donor

Case Reports in Hepatology, 2018, Vol.2018 (2018), p.1-4

2018

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Dermatofibrosarcoma protuberans: Recurrence is related to the adequacy of surgical margins

European journal of surgical oncology, 2010-01, Vol.36 (1), p.89-94

2010

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Mutations in AIFM1 cause a potentially treatable X-linked childhood cerebellar ataxia

European journal of paediatric neurology, 2017-06, Vol.21, p.e214-e214

2017

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Founder mutation for Huntington disease in Caucasus Jews

Clinical genetics, 2015-02, Vol.87 (2), p.167-172

2015

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Acute and long-term toxicity following radiotherapy alone or in combination with chemotherapy for locally advanced cervical cancer

Cancer treatment reviews, 2003-12, Vol.29 (6), p.471-488

2003

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Down-Regulation of Matrix Metalloproteinase-9 (MMP-9) Expression in the Myocardium of Congestive Heart Failure Patients

Transplantation proceedings, 2007-09, Vol.39 (7), p.2344-2346

2007

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120 UNVEILING A NEW MECHANISM OF REGULATION OF ANGIOGENESIS IN PORTAL HYPERTENSION THROUGH TRANSLATIONAL CONTROL BY THE CPEB FAMILY OF PROTEINS

Journal of hepatology, 2012-04, Vol.56, p.S53-S53

2012

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Long-term morbidity of adjuvant whole abdominal radiotherapy (WART) or chemotherapy for early stage ovarian cancer

European Journal of Cancer, 2009-05, Vol.45 (7), p.1193-1200

2009

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Prenatal diagnosis of Loeys-Dietz syndrome

Ultraschall in der Medizin, 2014-10, Vol.35 (5), p.391

2014

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Adjuvant chemoradiotherapy versus radiotherapy alone in women with high-risk endometrial cancer (PORTEC-3): patterns of recurrence and post-hoc survival analysis of a randomised phase 3 trial

The lancet oncology, 2019-09, Vol.20 (9), p.1273-1285

2019

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Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2

The Journal of clinical investigation, 1996-02, Vol.97 (3), p.699-705

1996

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Rapidly progressive Creutzfeldt-Jakob disease in patients with Familial Mediterranean Fever

European journal of neurology, 2010-06, Vol.17 (6), p.861-865

2010

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SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum

Behavior of biometric parameters during clinical hours

A role for TENM1 mutations in congenital general anosmia

Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin

OP0087 Increased risk of ischaemic heart disease and mortality among fmf patients – perspective from a big database

Effects of the combined administration of propranolol plus sorafenib on portal hypertension in cirrhotic rats

Fractures after multimodality treatment of soft tissue sarcomas with isolated limb perfusion and radiation; likely to occur and hard to heal

Chromosomal microarray analysis of miscarriage products in recurrent pregnancy loss

Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

Decreased Expression of Thrombospondin-1 in Failing Hearts May Favor Ventricular Remodeling

A Nonsense Mutation (W9X) in CRYAA Causes Autosomal Recessive Cataract in an Inbred Jewish Persian Family

Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome

Very Early In-Utero Diagnosis of Walker-Warburg Phenotype: The Cutting Edge of Technology

Hepatic Iron Overload following Liver Transplantation from a C282Y/H63D Compound Heterozygous Donor

Dermatofibrosarcoma protuberans: Recurrence is related to the adequacy of surgical margins

Mutations in AIFM1 cause a potentially treatable X-linked childhood cerebellar ataxia

Founder mutation for Huntington disease in Caucasus Jews

Acute and long-term toxicity following radiotherapy alone or in combination with chemotherapy for locally advanced cervical cancer

Down-Regulation of Matrix Metalloproteinase-9 (MMP-9) Expression in the Myocardium of Congestive Heart Failure Patients

120 UNVEILING A NEW MECHANISM OF REGULATION OF ANGIOGENESIS IN PORTAL HYPERTENSION THROUGH TRANSLATIONAL CONTROL BY THE CPEB FAMILY OF PROTEINS

Long-term morbidity of adjuvant whole abdominal radiotherapy (WART) or chemotherapy for early stage ovarian cancer

Prenatal diagnosis of Loeys-Dietz syndrome

Adjuvant chemoradiotherapy versus radiotherapy alone in women with high-risk endometrial cancer (PORTEC-3): patterns of recurrence and post-hoc survival analysis of a randomised phase 3 trial

Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2

Rapidly progressive Creutzfeldt-Jakob disease in patients with Familial Mediterranean Fever

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