Case Report: Uncommon Association of ITGB4 and KRT10 Gene Mutation in a Case of Epidermolysis Bullosa With Pyloric Atresia and Aplasia Cutis Congenita

por Matyas, Melinda, Miclea, Diana, Zaharie, Gabriela
Publicado 2021

Genetic testing in patients with global developmental delay / intellectual disabilities. A review

por MICLEA, DIANA, PECA, LOREDANA, CUZMICI, ZINA, POP, IOAN VICTOR
Publicado 2015

Genetic testing in pediatric endocrine pathology

por Miclea, Diana, Alkhzouz, Camelia, Bucerzan, Simona, Grigorescu-Sido, Paula
Publicado 2021

46,XX DSD: Developmental, Clinical and Genetic Aspects

por Alkhzouz, Camelia, Bucerzan, Simona, Miclaus, Maria, Mirea, Andreea-Manuela, Miclea, Diana
Publicado 2021

16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literatur...

por Bucerzan, Simona, Miclea, Diana, Lazea, Cecilia, Asavoaie, Carmen, Kulcsar, Andrea, Grigorescu-Sido, Paula
Publicado 2020

Early clinical signs in lysosomal diseases

por Alkhzouz, Camelia, Miclea, Diana, Bucerzan, Simona, Lazea, Cecilia, Nascu, Ioana, Sido, Paula Grigorescu
Publicado 2021

Challenges in the diagnosis and management of urea cycle disorders in Romanian children

por Pop, Tudor Lucian, Grama, Alina, Miclea, Diana, Vulturar, Romana, Benţa, Gabriel, Grigore, Mădălina, Simu, Claudia
Publicado 2021

Diagnostic, treatment and outcome possibilities in achondroplasia

por Bucerzan, Simona, Alkhzouz, Camelia, Crisan, Mirela, Miclea, Diana, Asavoaie, Carmen, Ilies, Roxana, Grigorescu-Sido, Paula
Publicado 2021

Diagnosis and Management of Genetic Causes of Middle Aortic Syndrome in Children: A Comprehensive Literature Review

por Lazea, Cecilia, Al-Khzouz, Camelia, Sufana, Crina, Miclea, Diana, Asavoaie, Carmen, Filimon, Ioana, Fufezan, Otilia
Publicado 2022

Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study)

por Bucerzan, Simona, Miclea, Diana, Popp, Radu, Alkhzouz, Camelia, Lazea, Cecilia, Pop, Ioan Victor, Grigorescu-Sido, Paula
Publicado 2017

Case Report: Potocki-Lupski Syndrome in Five Siblings

por Grama, Alina, Sîrbe, Claudia, Miclea, Diana, Cǎinap, Simona Sorana, Huniadi, Delia, Bulata, Bogdan, Pop, Tudor Lucian
Publicado 2021

Exploratory Longitudinal Analysis of the Circulating CHIT1 Activity in Pediatric Patients with Obesity

por Țaranu, Ioana, Răcătăianu, Nicoleta, Drugan, Cristina, Cătană, Cristina-Sorina, Mirea, Andreea-Manuela, Miclea, Diana, Bolboacă, Sorana D.
Publicado 2023

A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review

por Chirita Emandi, Adela, Dobrescu, Andreea Iulia, Doros, Gabriela, Hyon, Capucine, Miclea, Diana, Popoiu, Calin, Puiu, Maria, Arghirescu, Smaranda
Publicado 2019

Cardiovascular manifestations in Marfan syndrome

por Lazea, Cecilia, Bucerzan, Simona, Crisan, Mirela, Al-Khzouz, Camelia, Miclea, Diana, Şufană, Crina, Cismaru, Gabriel, Grigorescu-Sido, Paula
Publicado 2021

Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) with ABCC6 gene variant — Case report and literature...

por Fãgãrãşan, Amalia, Gozar, Liliana, Ghiragosian, Simina-Elena Rusu, Murariu, Mircea, Pop, Marian, Crauciuc, Andrei, Miclea, Diana, Şuteu, Carmen Corina
Publicado 2022

Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability

por Miclea, Diana, Osan, Sergiu, Bucerzan, Simona, Stefan, Delia, Popp, Radu, Mager, Monica, Puiu, Maria, Zimbru, Cristian, Chirita-Emandi, Adela, Alkhzouz, Camelia
Publicado 2022

Skeletal Abnormalities and VDR1 Gene Polymorphisms in Mucopolysaccharidosis Patients

por Alkhzouz, Camelia, Cabau, Georgiana, Lazea, Cecilia, Asavoaie, Carmen, Bucerzan, Simona, Mirea, Andreea Manuela, Farcas, Marius, Miclaus Jnr, Maria, Popp, Radu, Miclea, Diana
Publicado 2021

Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development

por Miclea, Diana, Alkhzouz, Camelia, Bucerzan, Simona, Grigorescu-Sido, Paula, Popp, Radu Anghel, Pascanu, Ionela Maria, Cret, Victoria, Ghervan, Cristina, Blaga, Ligia, Zaharie, Gabriela
Publicado 2021

Evaluation of Circulating Chitotriosidase Activity in Children with Obesity

por Țaranu, Ioana, Iancu, Mihaela, Lazea, Cecilia, Alkhzouz, Camelia, Răcătăianu, Nicoleta, Cătană, Cristina-Sorina, Mirea, Andreea-Manuela, Miclea, Diana, Bolboacă, Sorana D., Drugan, Cristina
Publicado 2022

Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study)

por Lazea, Cecilia, Bucerzan, Simona, Al-Khzouz, Camelia, Zimmermann, Anca, Vesa, Ștefan Cristian, Nașcu, Ioana, Creț, Victoria, Crișan, Mirela, Asăvoaie, Carmen, Miclea, Diana, Grigorescu-Sido, Paula
Publicado 2021