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The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion

Journal of endocrinological investigation, 2024-03, Vol.47 (3), p.739-747

2024

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Intact FGF23 concentration in healthy infants, children, and adolescents, and diagnostic usefulness in patients with X-linked hypophosphatemic rickets

Journal of endocrinological investigation, 2024-04, Vol.47 (4), p.873-882

2024

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Correction to: The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion

Journal of endocrinological investigation, 2024-06, Vol.47 (12), p.3137-3137

2024

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Correlations between periparturient serum concentrations of non-esterified fatty acids, beta-hydroxybutyric acid, bilirubin, and urea and the occurrence of clinical and subclinical postpartum bovine endometritis

BMC veterinary research, 2010-10, Vol.6 (1), p.47-47, Article 47

2010

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Impaired control of weight bearing ankle inversion in subjects with chronic ankle instability

Clinical biomechanics (Bristol), 2014-04, Vol.29 (4), p.439-443

2014

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Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations

Clinical genetics, 2011-04, Vol.79 (4), p.345-354

2011

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17q12 Microduplications: A challenge for clinicians

American journal of medical genetics. Part A, 2015-03, Vol.167A (3), p.674-676

2015

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Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal

British journal of dermatology (1951), 2013-06, Vol.168 (6), p.1364-1367

2013

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P-173 Extended molecular profiling in patients with biliary tract cancers: Impact of the BRCAness phenotype in patients management

Annals of oncology, 2023-06, Vol.34, p.S77-S77

2023

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Significant Improvement of Clinical Symptoms, Bone Lesions, and Bone Turnover after Long-Term Zoledronic Acid Treatment in Patients with a Severe Form of Camurati-Engelmann Disease

Molecular syndromology, 2017-11, Vol.8 (6), p.294-302

2017

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Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal: Correspondence

British journal of dermatology (1951), 2013-06, Vol.168 (6), p.1364-1367

2013

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Birt-Hogg-Dubé syndrome (BHDS)

Atlas of genetics and cytogenetics in oncology and haematology, 2014-06 (7)

2014

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Birt-Hogg-Dube Syndrome (BHD)

Atlas of genetics and cytogenetics in oncology and haematology, 2011-02 (3)

2011

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MAP (MUTYH-Associated Polyposis )

Atlas of genetics and cytogenetics in oncology and haematology, 2011-02 (4)

2011

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P28.05: Prenatal sonographic features in fetuses with severe long bone shortening during the third trimester

Ultrasound in obstetrics & gynecology, 2010-10, Vol.36 (S1), p.278-278

2010

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Multiloop functional renormalization group for the two-dimensional Hubbard model: Loop convergence of the response functions

SciPost Physics, 2019-01, Vol.6 (1), p.009, Article 009

2019

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Twin zygosity studies with the formula from DNA-View's Kinship Module after molecular analyses by polymorphic markers

International Congress series, 2004-01, Vol.1261, p.452-453

2004

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Das 4,4′-Diphenylsemikarbazid als Reagens für die Erkennung der Karbonylderivate

Fresenius' Zeitschrift für analytische Chemie, 1919-06, Vol.58 (6-7), p.291-291

1919

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17q12 microduplications: a challenge for clinicians

American journal of medical genetics. Part A, 2015, Vol.167A (3), p.674-676

2015

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Single components of botanicals and nature-identical compounds as a non-antibiotic strategy to ameliorate health status and improve performance in poultry and pigs

Nutrition research reviews, 2020-12, Vol.33 (2), p.218-234

2020

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Olive oil mixtures. Part one: Decisional trees or how to verify the olive oil percentage in declared blends

Food chemistry, 2020-06, Vol.315, p.126235-126235, Article 126235

2020

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Effect of Continuous Glucose Monitoring on Glycemic Control in Adults With Type 1 Diabetes Using Insulin Injections: The DIAMOND Randomized Clinical Trial

JAMA : the journal of the American Medical Association, 2017-01, Vol.317 (4), p.371

2017

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Olive oil mixtures. Part two: Detection of soft deodorized oil in extra virgin olive oil through diacylglycerol determination. Relationship with free acidity

Food chemistry, 2020-11, Vol.330, p.127226, Article 127226

2020

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Continuous Glucose Monitoring Versus Usual Care in Patients With Type 2 Diabetes Receiving Multiple Daily Insulin Injections: A Randomized Trial

Annals of internal medicine, 2017-09, Vol.167 (6), p.365

2017

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Sensory and chemical profile of a phenolic extract from olive mill waste waters in plant-base food with varied macro-composition

Food research international, 2019-05, Vol.119, p.236-243

2019

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The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion

Intact FGF23 concentration in healthy infants, children, and adolescents, and diagnostic usefulness in patients with X-linked hypophosphatemic rickets

Correction to: The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion

Correlations between periparturient serum concentrations of non-esterified fatty acids, beta-hydroxybutyric acid, bilirubin, and urea and the occurrence of clinical and subclinical postpartum bovine endometritis

Impaired control of weight bearing ankle inversion in subjects with chronic ankle instability

Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations

17q12 Microduplications: A challenge for clinicians

Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal

P-173 Extended molecular profiling in patients with biliary tract cancers: Impact of the BRCAness phenotype in patients management

Significant Improvement of Clinical Symptoms, Bone Lesions, and Bone Turnover after Long-Term Zoledronic Acid Treatment in Patients with a Severe Form of Camurati-Engelmann Disease

Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal: Correspondence

Birt-Hogg-Dubé syndrome (BHDS)

Birt-Hogg-Dube Syndrome (BHD)

MAP (MUTYH-Associated Polyposis )

P28.05: Prenatal sonographic features in fetuses with severe long bone shortening during the third trimester

Multiloop functional renormalization group for the two-dimensional Hubbard model: Loop convergence of the response functions

Twin zygosity studies with the formula from DNA-View's Kinship Module after molecular analyses by polymorphic markers

Das 4,4′-Diphenylsemikarbazid als Reagens für die Erkennung der Karbonylderivate

17q12 microduplications: a challenge for clinicians

Single components of botanicals and nature-identical compounds as a non-antibiotic strategy to ameliorate health status and improve performance in poultry and pigs

Olive oil mixtures. Part one: Decisional trees or how to verify the olive oil percentage in declared blends

Effect of Continuous Glucose Monitoring on Glycemic Control in Adults With Type 1 Diabetes Using Insulin Injections: The DIAMOND Randomized Clinical Trial

Olive oil mixtures. Part two: Detection of soft deodorized oil in extra virgin olive oil through diacylglycerol determination. Relationship with free acidity

Continuous Glucose Monitoring Versus Usual Care in Patients With Type 2 Diabetes Receiving Multiple Daily Insulin Injections: A Randomized Trial

Sensory and chemical profile of a phenolic extract from olive mill waste waters in plant-base food with varied macro-composition

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