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Illustrated Advanced Anterior Segment Surgery: A Step-by-Step Guide for Challenging Cases

1, 2021

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Black cartilage: Incidentally discovered articular ochronosis during arthroplasty

Journal of inherited metabolic disease, 2021-11, Vol.44 (6), p.1503-1504

2021

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Inverse Probability Tilting for Moment Condition Models with Missing Data

The Review of economic studies, 2012-07, Vol.79 (3), p.1053-1079

2012

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Efficient Estimation of Data Combination Models by the Method of Auxiliary-to-Study Tilting (AST)

Journal of business & economic statistics, 2016-04, Vol.34 (2), p.288-301

2016

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Modeling land cover change based on an artificial neural network for a semiarid river basin in northeastern Brazil

Global ecology and conservation, 2020-03, Vol.21, p.e00811, Article e00811

2020

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A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia

American journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.319-325

2022

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Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders

American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.517-527

2021

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NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.2902-2912

2015

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Identification of novel LFNG mutations in spondylocostal dysostosis

Journal of human genetics, 2019-03, Vol.64 (3), p.261-264

2019

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Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome

American journal of medical genetics. Part A, 2015-07, Vol.167A (7), p.1501-1509

2015

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Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

American journal of human genetics, 2009-06, Vol.84 (6), p.760-770

2009

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Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies

American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.733-739

2017

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Confirmation of spondylo‐epi‐metaphyseal dysplasia with joint laxity, EXOC6B type

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2934-2935

2018

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Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

American journal of medical genetics, 2004-12, Vol.131A (2), p.115-120

2004

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Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5

European journal of medical genetics, 2013-08, Vol.56 (8), p.452-457

2013

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Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

Arthritis & rheumatology (Hoboken, N.J.), 2016-09, Vol.68 (9), p.2323-2327

2016

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Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: A single case observation

American journal of medical genetics. Part A, 2014-10, Vol.164A (10), p.2667-2671

2014

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Intraocular lens power calculation in primary angle closure

Clinical & experimental ophthalmology, 2016-11, Vol.44 (8), p.663-665

2016

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Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life

Swiss medical weekly, 2020-07, Vol.150 (2728), p.w20285

2020

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Effect of endocyclophotocoagulation on refractive outcomes in angle-closure eyes after phacoemulsification and posterior chamber intraocular lens implantation

Journal of cataract and refractive surgery, 2016, Vol.42 (1), p.132-137

2016

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Elevated lactate in Mauriac syndrome: still a mystery

BMC endocrine disorders, 2021-08, Vol.21 (1), p.172-172, Article 172

2021

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Correction to: Elevated lactate in Mauriac syndrome: still a mystery

BMC endocrine disorders, 2021-09, Vol.21 (1), p.1-194, Article 194

2021

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Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

American journal of human genetics, 2011-05, Vol.88 (5), p.608-615

2011

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Post-treatment of anaerobic reactor effluent using coagulation/oxidation followed by double filtration

Environmental science and pollution research international, 2016-04, Vol.23 (7), p.6244-6252

2016

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Illustrated Advanced Anterior Segment Surgery: A Step-by-Step Guide for Challenging Cases

Black cartilage: Incidentally discovered articular ochronosis during arthroplasty

Inverse Probability Tilting for Moment Condition Models with Missing Data

Efficient Estimation of Data Combination Models by the Method of Auxiliary-to-Study Tilting (AST)

Modeling land cover change based on an artificial neural network for a semiarid river basin in northeastern Brazil

A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene

Identification of novel LFNG mutations in spondylocostal dysostosis

Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome

Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies

Confirmation of spondylo‐epi‐metaphyseal dysplasia with joint laxity, EXOC6B type

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: A single case observation

Intraocular lens power calculation in primary angle closure

Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life

Effect of endocyclophotocoagulation on refractive outcomes in angle-closure eyes after phacoemulsification and posterior chamber intraocular lens implantation

Elevated lactate in Mauriac syndrome: still a mystery

Correction to: Elevated lactate in Mauriac syndrome: still a mystery

Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

Post-treatment of anaerobic reactor effluent using coagulation/oxidation followed by double filtration

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