Search Results - "Gucev Z"

GROWTH HORMONE DEFICIENCY (GHD) AND SMALL FOR GESTATIONAL AGE (SGA): GENETIC ALTERATIONS.

Authors: Jancevska, A. Gucev, Z. S. Pop-Jordanova, N. et al.

Source: Contributions of Macedonian Academy of Sciences & Arts. 2009, Vol. 30 Issue 2, p33-55. 23p.

TYPE I GAUCHER DISEASE (GDI) IN THREE SIBLINGS: ENZYME REPLACEMENT TREATMENT (ERT) REQUIRED.

Authors: Gucev, Z. S. Tasic, V. Pop-Jordanova, N. et al.

Source: Contributions of Macedonian Academy of Sciences & Arts. 2009, Vol. 30 Issue 1, p233-239. 7p. 1 Black and White Photograph.

RARE DISEASE IN SOUTH-EASTERN EUROPE, 15-17 NOVEMBER 2012, SKOPJE, REPUBLIC OF MACEDONIA.

Authors: Gucev Z. Tasic V. Polenakovic M.

Source: Contributions of Macedonian Academy of Sciences & Arts. 2012, Vol. 33 Issue 2, p279-281. 3p.

Ceftriaxone associated urolithiasis in a child with hypercalciuria.

Authors: Lozanovski, V. J. Gucev, Z. Avramoski, V. J. et al.

Source: Hippokratia. Apr2011, Vol. 15 Issue 2, p181-183. 3p. 1 Black and White Photograph, 1 Graph.

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

Authors: Janchevska, A. Tasic, V. Gucev, Z. et al.

Source: Balkan Journal of Medical Genetics. Dec2014, Vol. 17 Issue 2, p81-85. 5p.

Two Brothers from Macedonia with Gitelman Syndrome.

Authors: Janchevska, A Tasic, V Jordanova, O et al.

Source: Balkan Journal of Medical Genetics. 2023, Vol. 26 Issue 1, p69-74. 6p.

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

Authors: Gucev, Z. Koceva, S. Marinaki, A. et al.

Source: Clinical Genetics. Sep2010, Vol. 78 Issue 3, p296-297. 2p. 1 Black and White Photograph, 1 Diagram, 1 Chart.

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.

Authors: Tasic, V Mitrotti, A Riepe, FG et al.

Source: Balkan Journal of Medical Genetics. Jun2019, Vol. 22 Issue 1, p81-88. 7p.

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

Authors: Robertson, K. J. Schoenle, E. Gucev, Z. et al.

Source: Diabetic Medicine. Jan2007, Vol. 24 Issue 1, p27-34. 8p. 3 Charts.

CHILDREN BORN SMALL FOR GESTATIONAL AGE (SGA).

Alternate Title: ДЕЦА РОДЕНИ МАЛИ ЗА ГЕСТАЦИСКАТА ВОЗРАСТ (MГВ)

Authors: Jancevska A. Tasic V. Damcevski N. et al.

Source: Contributions of Macedonian Academy of Sciences & Arts. 2012, Vol. 33 Issue 2, p47-58. 12p.

IDENTICAL MONOCHORIONIC TWINS WITH DOWN SYNDROME AND PATERNAL ORIGIN OF THE EXTRA CHROMOSOME 21.

Alternate Title: ИДЕНТИЧНИ МОНОХОРИОНСКИ БЛИЗНАЦИ СО ДАУНОВ СИНДРОМ И РОДИТЕЛСКО ПОТЕКЛО НА ЕКСТРАХРОМОЈОМОТ 21

Authors: Urumova A. Tasic, Velibor Bojadjieva E. et al.

Source: Contributions of Macedonian Academy of Sciences & Arts. 2012, Vol. 33 Issue 2, p41-46. 6p.

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis.

Authors: Wu, N. Ming, X. Xiao, J. et al.

Source: New England Journal of Medicine. 1/22/2015, Vol. 372 Issue 4, p341-350. 10p. 1 Black and White Photograph, 1 Diagram, 2 Charts, 1 Graph.

Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.

Authors: Christians A Kesdiren E Hennies I et al.

Source: Human genetics [Hum Genet] 2023 Jan; Vol. 142 (1), pp. 73-88. Date of Electronic Publication: 2022 Sep 06.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

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

Authors: Kesdiren E Martens H Brand F et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Jan; Vol. 33 (1), pp. 44-55. Date of Electronic Publication: 2024 Oct 17.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Neurodevelopment of Critical ILL Neonates at the Age of 12 Months.

Authors: Ristovska S Gucev Z Dukovska V

Source: Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki) [Pril (Makedon Akad Nauk Umet Odd Med Nauki)] 2024 Dec 12; Vol. 45 (3), pp. 25-36. Date of Electronic Publication: 2024 Dec 12 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Makedonska akademija na naukite i umetnostite Country of Publication: North Macedonia NLM ID: 101677081 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1857-8985 (Electronic) Linking ISSN: 18579345 NLM ISO Abbreviation: Pril (Makedon Akad Nauk Umet Odd Med Nauki) Subsets: MEDLINE

Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries.

Authors: Magner M Almássy Z Gucev Z et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 May 10; Vol. 17 (1), pp. 190. Date of Electronic Publication: 2022 May 10.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Consensus Statement

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.

Authors: Tylki-Szymańska A Almássy Z Christophidou-Anastasiadou V et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Mar 24; Vol. 17 (1), pp. 136. Date of Electronic Publication: 2022 Mar 24.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

Authors: Teov B Janchevska A Beqiri-Jasari A et al.

Source: Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki) [Pril (Makedon Akad Nauk Umet Odd Med Nauki)] 2023 Dec 18; Vol. 44 (3), pp. 85-90. Date of Electronic Publication: 2023 Dec 18 (Print Publication: 2023).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Makedonska akademija na naukite i umetnostite Country of Publication: North Macedonia NLM ID: 101677081 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1857-8985 (Electronic) Linking ISSN: 18579345 NLM ISO Abbreviation: Pril (Makedon Akad Nauk Umet Odd Med Nauki) Subsets: MEDLINE

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.

Authors: Ahram DF Lim TY Ke J et al.

Source: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2023 Jun 01; Vol. 34 (6), pp. 1105-1119. Date of Electronic Publication: 2023 Mar 30.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wolters Kluwer Health, on behalf of the American Society of Nephrology Country of Publication: United States NLM ID: 9013836 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-3450 (Electronic) Linking ISSN: 10466673 NLM ISO Abbreviation: J Am Soc Nephrol Subsets: MEDLINE

Severe digital malformations in a rare variant of fibrodysplasia ossificans progressiva.

Authors: Gucev Z Tasic V Plaseska-Karanfilska D et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Jul; Vol. 179 (7), pp. 1310-1314. Date of Electronic Publication: 2019 Apr 22.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE