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Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

American journal of human genetics, 2012-04, Vol.90 (4), p.661-674

2012

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Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

American journal of human genetics, 2010-12, Vol.87 (6), p.834-841

2010

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Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

American journal of human genetics, 2010-05, Vol.86 (5), p.789-796

2010

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Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon‐like craniosynostosis

Molecular genetics & genomic medicine, 2013-11, Vol.1 (4), p.223-237

2013

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Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Nature genetics, 2003-12, Vol.35 (4), p.318-321

2003

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Assignment of a Locus (GLC3A) for Primary Congenital Glaucoma (Buphthalmos) to 2p21 and Evidence for Genetic Heterogeneity

Genomics (San Diego, Calif.), 1995-11, Vol.30 (2), p.171-177

1995

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Genomic Structure of HOXD13 Gene: A Nine Polyalanine Duplication Causes Synpolydactyly in Two Unrelated Families

Human molecular genetics, 1996-07, Vol.5 (7), p.945-952

1996

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CRIM1 haploinsufficiency causes defects in eye development in human and mouse

Human molecular genetics, 2015-04, Vol.24 (8), p.2267-2273

2015

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Prevalence of peripheral neuropathy and painful peripheral neuropathy in Turkish diabetic patients

Journal of clinical neurophysiology, 2011-02, Vol.28 (1), p.51-55

2011

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Identification of Three Different Truncating Mutations in Cytochrome P4501B1 (CYP1B1) as the Principal Cause of Primary Congenital Glaucoma (Buphthalmos) in Families Linked to the GLC3A Locus on Chromosome 2p21

Human molecular genetics, 1997-04, Vol.6 (4), p.641-647

1997

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Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes

Clinical genetics, 2014-06, Vol.85 (6), p.562-567

2014

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A Second Locus (GLC3B) for Primary Congenital Glaucoma (Buphthalmos) Maps to the 1p36 Region

Human molecular genetics, 1996-08, Vol.5 (8), p.1199-1203

1996

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DACH: Genomic Characterization, Evaluation as a Candidate for Postaxial Polydactyly Type A2, and Developmental Expression Pattern of the Mouse Homologue

Genomics (San Diego, Calif.), 2001-09, Vol.77 (1-2), p.18-26

2001

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A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12

Archives of ophthalmology (1960), 2000-08, Vol.118 (8), p.1090

2000

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Effects of whole-body vibration and high impact exercises on the bone metabolism and functional mobility in postmenopausal women

Journal of bone and mineral metabolism, 2020-05, Vol.38 (3), p.392-404

2020

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The effects of modified and palliflex controlled atmosphere storage on postharvest quality and composition of ‘Istanbul’ medlar fruit

Postharvest biology and technology, 2015-01, Vol.99, p.9-19

2015

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Mechanical Properties and Bond Strength of Additively Manufactured and Milled Dental Zirconia: A Pilot Study

Journal of prosthodontics, 2022-08, Vol.31 (7), p.629-634

2022

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A mild course of COVID-19 infection in a generalized Myasthenia gravis patient under eculizumab treatment

Neurological sciences, 2022-09, Vol.43 (9), p.5185-5187

2022

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The effects of different positions on saturation and vital signs in patients

Nursing in critical care, 2021-01, Vol.26 (1), p.28-34

2021

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Continuous Wavelet Transforms for the Simultaneous Quantitative Analysis and Dissolution Testing of Lamivudine–Zidovudine Tablets

Chemical and Pharmaceutical Bulletin, 2013/12/01, Vol.61(12), pp.1220-1227

2013

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Median nerve stiffness measurement by shear wave elastography: a potential sonographic method in the diagnosis of carpal tunnel syndrome

European radiology, 2014-02, Vol.24 (2), p.434-440

2014

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SMARTer single cell total RNA sequencing

Nucleic acids research, 2019-09, Vol.47 (16), p.e93-e93

2019

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Effect of oral antiseptics on the viral load of SARS-CoV-2: A randomized controlled trial

Dental and medical problems, 2022-07, Vol.59 (3), p.357-363

2022

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The Sloan Digital Sky Survey quasar catalog: tenth data release

Astronomy and astrophysics (Berlin), 2014-03, Vol.563, p.np-np

2014

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Determination of nursing students’ attitudes towards the use of technology

Japan journal of nursing science : JJNS, 2019-01, Vol.16 (1), p.17-24

2019

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Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon‐like craniosynostosis

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Assignment of a Locus (GLC3A) for Primary Congenital Glaucoma (Buphthalmos) to 2p21 and Evidence for Genetic Heterogeneity

Genomic Structure of HOXD13 Gene: A Nine Polyalanine Duplication Causes Synpolydactyly in Two Unrelated Families

CRIM1 haploinsufficiency causes defects in eye development in human and mouse

Prevalence of peripheral neuropathy and painful peripheral neuropathy in Turkish diabetic patients

Identification of Three Different Truncating Mutations in Cytochrome P4501B1 (CYP1B1) as the Principal Cause of Primary Congenital Glaucoma (Buphthalmos) in Families Linked to the GLC3A Locus on Chromosome 2p21

Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes

A Second Locus (GLC3B) for Primary Congenital Glaucoma (Buphthalmos) Maps to the 1p36 Region

DACH: Genomic Characterization, Evaluation as a Candidate for Postaxial Polydactyly Type A2, and Developmental Expression Pattern of the Mouse Homologue

A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12

Effects of whole-body vibration and high impact exercises on the bone metabolism and functional mobility in postmenopausal women

The effects of modified and palliflex controlled atmosphere storage on postharvest quality and composition of ‘Istanbul’ medlar fruit

Mechanical Properties and Bond Strength of Additively Manufactured and Milled Dental Zirconia: A Pilot Study

A mild course of COVID-19 infection in a generalized Myasthenia gravis patient under eculizumab treatment

The effects of different positions on saturation and vital signs in patients

Continuous Wavelet Transforms for the Simultaneous Quantitative Analysis and Dissolution Testing of Lamivudine–Zidovudine Tablets

Median nerve stiffness measurement by shear wave elastography: a potential sonographic method in the diagnosis of carpal tunnel syndrome

SMARTer single cell total RNA sequencing

Effect of oral antiseptics on the viral load of SARS-CoV-2: A randomized controlled trial

The Sloan Digital Sky Survey quasar catalog: tenth data release

Determination of nursing students’ attitudes towards the use of technology

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