Bone mineral density and bone turnover in Romanian children and young adults with classical 21‐hydroxylase deficiency are influenced by glucocorticoid replacement therapy A Zimmermann, PG Sido, E Schulze, C Al Khzouz, C Lazea, C Coldea, ... Clinical endocrinology 71 (4), 477-484, 2009 | 46 | 2009 |
Alterations in lipid and carbohydrate metabolism in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency A Zimmermann, P Grigorescu-Sido, C AlKhzouz, K Patberg, S Bucerzan, ... Hormone research in paediatrics 74 (1), 41-49, 2010 | 45 | 2010 |
Prevalence of the c. 35delG and p. W24X mutations in the GJB2 gene in patients with nonsyndromic hearing loss from North-West Romania C Lazăr, R Popp, A Trifa, C Mocanu, G Mihut, C Al-Khzouz, E Tomescu, ... International journal of pediatric otorhinolaryngology 74 (4), 351-355, 2010 | 37 | 2010 |
Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study) S Bucerzan, D Miclea, R Popp, C Alkhzouz, C Lazea, IV Pop, ... Therapeutics and clinical risk management, 613-622, 2017 | 29 | 2017 |
46, XX DSD: developmental, clinical and genetic aspects C Alkhzouz, S Bucerzan, M Miclaus, AM Mirea, D Miclea Diagnostics 11 (8), 1379, 2021 | 18 | 2021 |
Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study A Zimmermann, P Grigorescu-Sido, H Rossmann, KJ Lackner, C Drugan, ... Journal of inherited metabolic disease 36, 555-563, 2013 | 18 | 2013 |
One molecule for mental nourishment and more: glucose transporter type 1—biology and deficiency syndrome R Vulturar, A Chiș, S Pintilie, IM Farcaș, A Botezatu, CC Login, ... Biomedicines 10 (6), 1249, 2022 | 14 | 2022 |
Cholelithiasis in Patients with Gaucher Disease type 1: Risk Factors and the Role of ABCG5/ABCG8 Gene Variants. A Zimmermann, RA Popp, C Al-Khzouz, S Bucerzan, I Naşcu, D Leucuta, ... Journal of Gastrointestinal & Liver Diseases 25 (4), 2016 | 12 | 2016 |
Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability D Micleaa, C Al-Khzouza, S Osan, S Bucerzan, V Cret, RA Popp, M Puiu, ... Journal of Pediatric Endocrinology and Metabolism 32 (7), 667-674, 2019 | 9 | 2019 |
Diagnostic usefulness of MLPA techniques for recurrent copy number variants detection in global developmental delay/intellectual disability D Miclea, A Szucs, A Mirea, DM Stefan, F Nazarie, S Bucerzan, C Lazea, ... International Journal of General Medicine, 4511-4515, 2021 | 8 | 2021 |
GJB2 and GJB6 genes mutations in children with non-syndromic hearing loss C Lazăr, R Popp, C Al-Khzouz, G Mihuț, P Grigorescu-Sido Revista Romana de Medicina de Laborator 25 (1), 37-46, 2017 | 8 | 2017 |
Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II C Alkhzouz, C Lazea, S Bucerzan, I Nascu, E Kiss, CL Denes, ... Springer Berlin Heidelberg, 2017 | 8 | 2017 |
Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1 P Grigorescu-Sido, C Drugan, C AlKhzouz, A Zimmermann, C Coldea, ... European Journal of Internal Medicine 21 (2), 104-113, 2010 | 8 | 2010 |
Cardiovascular manifestations in Marfan syndrome C Lazea, S Bucerzan, M Crisan, C Al-Khzouz, D Miclea, C Şufană, ... Medicine and Pharmacy Reports 94 (Suppl No 1), S25, 2021 | 6 | 2021 |
ASSESSMENT OF THE SHOX GENE AND CHROMOSOMAL ABNORMALITIES BY MOLECULAR AND CLASSICAL CYTOGENETICS IN PATIENTS WITH SHORT STATURE. DL Miclea, C Al Khzouz, S Bucerzan, V Creț, C Lazea, I Nascu, S Man, ... Acta Endocrinologica (1841-0987) 11 (4), 2015 | 6 | 2015 |
Diagnosis and management of genetic causes of middle aortic syndrome in children: a comprehensive literature review C Lazea, C Al-Khzouz, C Sufana, D Miclea, C Asavoaie, I Filimon, ... Therapeutics and Clinical Risk Management, 233-248, 2022 | 5 | 2022 |
Molecular and cytogenetic analysis of Romanian patients with differences in sex development D Miclea, C Alkhzouz, S Bucerzan, P Grigorescu-Sido, RA Popp, ... Diagnostics 11 (11), 2107, 2021 | 5 | 2021 |
Ultrasonographic evaluation of the median nerve at the level of the carpal tunnel outlet and mid forearm in patients with type II Mucopolysaccharidosis C Bocsa, C Asavoaie, S Bucerzan, I Nascu, I Brumboiu, C Al-Khzouz Medical Ultrasonography 18 (1), 36-41, 2016 | 5 | 2016 |
The c. 301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency C Lazea, P Grigorescu-Sido, R Popp, M Legendre, S Amselem, ... Journal of Pediatric Endocrinology and Metabolism 28 (9-10), 993-998, 2015 | 5 | 2015 |
DISLIPIDEMIA LA COPIII ŞI ADOLESCENŢII OBEZI. A Pop, C Al-Khzouz, A Zimmermann, P Grigorescu-Sido Clujul Medical 83 (1), 2010 | 5 | 2010 |