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Clinical and molecular aspects of aniridia

Clinical genetics, 2010-05, Vol.77 (5), p.409-420

2010

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Mitochondrial deafness

Clinical genetics, 2007-05, Vol.71 (5), p.379-391

2007

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Non-syndromic, autosomal-recessive deafness

Clinical genetics, 2006-05, Vol.69 (5), p.371-392

2006

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Clinical variability of genetic isolates of Cohen syndrome

Clinical genetics, 2011-06, Vol.79 (6), p.501-506

2011

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Sex-linked deafness

Clinical genetics, 2008-01, Vol.73 (1), p.14-23

2008

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Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

Clinical genetics, 2008-09, Vol.74 (3), p.223-232

2008

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ECEL1 mutation causes fetal arthrogryposis multiplex congenita

American journal of medical genetics. Part A, 2015-04, Vol.167A (4), p.731-743

2015

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High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis

Clinical genetics, 2012-02, Vol.81 (2), p.172-178

2012

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Investigation of associations of ARMS2 , CD14 , and TLR4 gene polymorphisms with wet age-related macular degeneration in a Greek population

Clinical ophthalmology (Auckland, N.Z.), 2017-01, Vol.11, p.1347-1358

2017

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Early manifestations of the carbohydrate-deficient glycoprotein syndrome

The Journal of pediatrics, 1993, Vol.122 (1), p.66-70

1993

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Origin and mechanisms of non-disjunction In human autosomal trisomies

Human reproduction (Oxford), 1998-02, Vol.13 (2), p.313-319

1998

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THU0110 Affinity and potency of the anti-NKG2A MAB NNC141-0100: Implications for mabel and dosing in the first-in-man trial in rheumatoid arthritis

Annals of the rheumatic diseases, 2013-06, Vol.71 (Suppl 3), p.191-191

2013

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Non-syndromic autosomal-dominant deafness

Clinical genetics, 2002-07, Vol.62 (1), p.1-13

Petersen, MB

2002

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Rapid brain cooling in intubated pigs through nasal flushing with oxygen: Prevention of brain hyperthermia

Acta veterinaria scandinavica, 2001-01, Vol.42 (4), p.459-464, Article 459

2001

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Abstract P5-01-08: Preoperative Positron Emission Tomography/Computed Tomography (PET/CT) and 18F-Fluorodeoxyglucose (18F-FDG) Compared with Conventional Assessment in Patients with Early Primary Breast Cancer: Preliminary Results of a Prospective Study

Cancer research (Chicago, Ill.), 2010-12, Vol.70 (24_Supplement), p.P5-P5-01-08

2010

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Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro

Human mutation, 2005-06, Vol.25 (6), p.543-549

2005

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Hellenic National Mutation Database: a prototype database for mutations leading to inherited disorders in the Hellenic population

Human mutation, 2005-04, Vol.25 (4), p.327-333

2005

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Human Ring Chromosomes - New Insights for their Clinical Significance

Balkan journal of medical genetics, 2013-06, Vol.16 (1), p.13-19

2013

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Characterization of Susceptible Chiasma Configurations that Increase the Risk for Maternal Nondisjunction of Chromosome 21

Human molecular genetics, 1997-09, Vol.6 (9), p.1391-1399

1997

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Influence of harvest year and harvest time on soluble solids, titrateable acid, anthocyanin content and aroma components in sour cherry (Prunus cerasus L. cv. Stevnsbær)

European food research & technology, 2003-03, Vol.216 (3), p.212-216

2003

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Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

Yearbook of Paediatric Endocrinology, 2021-09

2021

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Nondisjunction in trisomy 21: origin and mechanisms

Cytogenetic and genome research, 2000-01, Vol.91 (1-4), p.199-203

2000

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O-9. Origin and mechanisms of human non-disjunction

Reproductive biomedicine online, 2002, Vol.4, p.13-13

Petersen, MB

2002

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A Large GLC1C Greek Family with a Myocilin T377M Mutation: Inheritance and Phenotypic Variability

Investigative ophthalmology & visual science, 2006-02, Vol.47 (2), p.620-625

2006

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Scratch induction in the rat by intradermal serotonin: a model for pruritus

Acta dermato-venereologica, 2001-08, Vol.81 (4), p.250-254

2001

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Clinical and molecular aspects of aniridia

Mitochondrial deafness

Non-syndromic, autosomal-recessive deafness

Clinical variability of genetic isolates of Cohen syndrome

Sex-linked deafness

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

ECEL1 mutation causes fetal arthrogryposis multiplex congenita

High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis

Investigation of associations of ARMS2 , CD14 , and TLR4 gene polymorphisms with wet age-related macular degeneration in a Greek population

Early manifestations of the carbohydrate-deficient glycoprotein syndrome

Origin and mechanisms of non-disjunction In human autosomal trisomies

THU0110 Affinity and potency of the anti-NKG2A MAB NNC141-0100: Implications for mabel and dosing in the first-in-man trial in rheumatoid arthritis

Non-syndromic autosomal-dominant deafness

Rapid brain cooling in intubated pigs through nasal flushing with oxygen: Prevention of brain hyperthermia

Abstract P5-01-08: Preoperative Positron Emission Tomography/Computed Tomography (PET/CT) and 18F-Fluorodeoxyglucose (18F-FDG) Compared with Conventional Assessment in Patients with Early Primary Breast Cancer: Preliminary Results of a Prospective Study

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro

Hellenic National Mutation Database: a prototype database for mutations leading to inherited disorders in the Hellenic population

Human Ring Chromosomes - New Insights for their Clinical Significance

Characterization of Susceptible Chiasma Configurations that Increase the Risk for Maternal Nondisjunction of Chromosome 21

Influence of harvest year and harvest time on soluble solids, titrateable acid, anthocyanin content and aroma components in sour cherry (Prunus cerasus L. cv. Stevnsbær)

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

Nondisjunction in trisomy 21: origin and mechanisms

O-9. Origin and mechanisms of human non-disjunction

A Large GLC1C Greek Family with a Myocilin T377M Mutation: Inheritance and Phenotypic Variability

Scratch induction in the rat by intradermal serotonin: a model for pruritus

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