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Comments on: Kocova M, Anastasovska V. Comments on ‘Newborn screening in southeastern Europe’ published in Molecular Genetics and Metabolism, 2014 Sept–Oct;113(1–2):42–45 by U. Groselj, M. ZerjavTansek, A. Smon, N. Angelkova, D. Anton, I. Baric, M. Djordjevic, L. Grimci, M. Ivanova, A. Kadam, V. Mulliqi Kotori, H. Maksic, O. Marginean, O. Margineanu, O. Milijanovic, F. Moldovanu, M. Muresan, S. Murko, M. Nanu, B. Repic Lampert, M. Samardzic, V. Sarnavka, A. Savov, M. Stojiljkovic, B. Suzic, R. T

Molecular genetics and metabolism reports, 2017-12, Vol.13 (C), p.13-13

Gucev, Z.

2017

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Two Brothers from Macedonia with Gitelman Syndrome

Balkan journal of medical genetics, 2023-07, Vol.26 (1), p.69-74

2023

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Duplication of The SOX3 Gene in an Sry-negative 46,XX Male with Associated Congenital Anomalies of Kidneys and the Urinary Tract: Case Report and Review of the Literature

Balkan journal of medical genetics, 2019-08, Vol.22 (1), p.81-88

2019

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Characteristic diagnostic clues of metatropic dysplasia: The lumbothoracic humpback with dumbbell appearance of the long bones

Balkan journal of medical genetics, 2018-12, Vol.21 (2), p.35-38

2018

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Insulin detemir compared with NPH insulin in children and adolescents with Type 1 diabetes

Diabetic medicine, 2007-01, Vol.24 (1), p.27-34

2007

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The many faces of rare diseases (RD): meeting report on Rare Disease in South-Eastern Europe, 15-16 November 2013, Skopje, Republic of Macedonia

Pediatric endocrinology reviews : PER, 2014-03, Vol.11 (3), p.337

2014

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740 Duplication of the Sox3 Gene in a Sry Negative 46, XX Male

Archives of disease in childhood, 2012-10, Vol.97 (Suppl 2), p.A213-A214

2012

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Aldosterone synthase deficiency type II with hypospadias

Indian pediatrics, 2012-04, Vol.49 (4), p.318-320

2012

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X-Linked Recessive Form of Nephrogenic Diabetes Insipidus in A 7-Year-Old Boy

Balkan journal of medical genetics, 2014-12, Vol.17 (2), p.81-85

2014

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Emanuel Syndrome (ES): new case-report and review of the literature

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki), 2015, Vol.36 (1), p.205-208

2015

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Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype

Clinical genetics, 2010-09, Vol.78 (3), p.296-297

2010

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Severe scoliosis, torticollis and short stature in a woman with Wildervanck Syndrome (WS)

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki), 2015, Vol.36 (1), p.209-211

2015

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Renal dysplasia in Bardet-Biedl syndrome

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki), 2015, Vol.36 (1), p.211-215

2015

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OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts

World journal of pediatrics : WJP, 2011-08, Vol.7 (3), p.280-283

2011

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Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract

European journal of human genetics : EJHG, 2024-10

2024

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Ceftriaxone associated urolithiasis in a child with hypercalciuria

Hippokratia, 2011-01, Vol.15 (2), p.181-183

2011

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Treatment and long-term outcome in primary distal renal tubular acidosis

Nephrology, dialysis, transplantation, 2019-06, Vol.34 (6), p.981-991

2019

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Somapacitan, a once‐weekly reversible albumin‐binding GH derivative, in children with GH deficiency: A randomized dose‐escalation trial

Clinical endocrinology (Oxford), 2017-10, Vol.87 (4), p.350-358

2017

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Mutations in DSTYK and Dominant Urinary Tract Malformations

The New England journal of medicine, 2013-08, Vol.369 (7), p.621-629

2013

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Premature thelarche in Macedonia: a three-year follow-up

Bratislavské lékarské listy, 2007, Vol.108 (8), p.340-343

2007

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Evidence for insulin-like growth factor (IGF)-independent transcriptional regulation of IGF binding protein-3 by growth hormone in SKHEP-1 human hepatocarcinoma cells

Endocrinology (Philadelphia), 1997-04, Vol.138 (4), p.1464-1470

1997

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Stress Tolerance Test and SDS-PAGE for the Analysis of Urinary Proteins in Children and Youths

Clinical chemistry and laboratory medicine, 2001-06, Vol.39 (6), p.478-483

2001

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Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

Yearbook of Paediatric Endocrinology, 2022-09

2022

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Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction

Nephrology, dialysis, transplantation, 2010-01, Vol.25 (1), p.54-60

2010

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Insulin-like growth factor binding protein 3 mediates retinoic acid- and transforming growth factor β2-induced growth inhibition in human breast cancer cells

Cancer research (Chicago, Ill.), 1996-04, Vol.56 (7), p.1545-1550

1996

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Two Brothers from Macedonia with Gitelman Syndrome

Duplication of The SOX3 Gene in an Sry-negative 46,XX Male with Associated Congenital Anomalies of Kidneys and the Urinary Tract: Case Report and Review of the Literature

Characteristic diagnostic clues of metatropic dysplasia: The lumbothoracic humpback with dumbbell appearance of the long bones

Insulin detemir compared with NPH insulin in children and adolescents with Type 1 diabetes

The many faces of rare diseases (RD): meeting report on Rare Disease in South-Eastern Europe, 15-16 November 2013, Skopje, Republic of Macedonia

740 Duplication of the Sox3 Gene in a Sry Negative 46, XX Male

Aldosterone synthase deficiency type II with hypospadias

X-Linked Recessive Form of Nephrogenic Diabetes Insipidus in A 7-Year-Old Boy

Emanuel Syndrome (ES): new case-report and review of the literature

Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype

Severe scoliosis, torticollis and short stature in a woman with Wildervanck Syndrome (WS)

Renal dysplasia in Bardet-Biedl syndrome

OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts

Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract

Ceftriaxone associated urolithiasis in a child with hypercalciuria

Treatment and long-term outcome in primary distal renal tubular acidosis

Somapacitan, a once‐weekly reversible albumin‐binding GH derivative, in children with GH deficiency: A randomized dose‐escalation trial

Mutations in DSTYK and Dominant Urinary Tract Malformations

Premature thelarche in Macedonia: a three-year follow-up

Evidence for insulin-like growth factor (IGF)-independent transcriptional regulation of IGF binding protein-3 by growth hormone in SKHEP-1 human hepatocarcinoma cells

Stress Tolerance Test and SDS-PAGE for the Analysis of Urinary Proteins in Children and Youths

Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction

Insulin-like growth factor binding protein 3 mediates retinoic acid- and transforming growth factor β2-induced growth inhibition in human breast cancer cells

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