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16P Subtelomeric Duplication With Vascular Anomalies: An Albanian Case Report And Literature Review

Balkan journal of medical genetics, 2012-12, Vol.15 (2), p.73-76

2012

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Molecular Genetic Characterization of β-Thalassemia and Sickle Cell Syndrome in the Albanian Population

Balkan journal of medical genetics, 2011-01, Vol.14 (1), p.45-50

2011

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Clinical and molecular findings in an Albanian family with familial adenomatous polyposis

Genetics and molecular research, 2017-10 (4), p.1

2017

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The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation

Genetic counseling, 2011-01, Vol.22 (4), p.377

2011

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Research Article A targeted NGS approach to identify a c.352C>G variant in the TWIST1 gene in an Albanian family with Saethre–Chotzen syndrome

Genetics and molecular research, 2017, Vol.16 (4)

2017

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Clinical and molecular findings in an Albanian family with familial adenomatous polyposis

Genetics and molecular research, 2017, Vol.16 (3)

2017

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Molecular Genetic Characterization of [beta]-Thalassemia and Sickle Cell Syndrome in the Albanian Population

Balkan journal of medical genetics, 2011-01, Vol.14 (1), p.45

2011

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16p subtelomeric duplication with vascular anomalies: an Albanian case report and literature review

Balkan journal of medical genetics : BJMG, 2012, Vol.15 (2), p.73-76

2012

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Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study

Prenatal diagnosis, 2023-02, Vol.43 (2), p.144-155

2023

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Genetic Diagnosis of Chromosomal Congenital Anomalies in Albanian Pediatric Patients by Array CGH

Open access Macedonian journal of medical sciences, 2017-08, Vol.5 (5), p.587-591

2017

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A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients

Molecular syndromology, 2019-11, Vol.10 (5), p.272-275

2019

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Turner syndrome in Albania and the efficacy of its treatment with growth hormone

Journal of Pediatric Endocrinology and Metabolism, 2015-11, Vol.28 (11-12), p.1227

2015

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Epileptic Seizures Associated with Chromosomal Abnormalities Detected by Array Comparative Genomic Hybridization in Five Albanian Children

Journal of pediatric epilepsy, 2017-09, Vol.6 (3), p.156-160

2017

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A targeted NGS approach to identify a c.352C>G variant in the TWIST1 gene in an Albanian family with Saethre–Chotzen syndrome

Genetics and molecular research, 2017-11 (4), p.1

2017

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Research Article Clinical and molecular findings in an Albanian family with familial adenomatous polyposis

Genetics and molecular research, 2017, Vol.16 (4)

2017

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A Pilot Beta-Thalassaemia Screening Program in the Albanian Population for a Health Planning Program

Acta haematologica, 2009-01, Vol.121 (4), p.234-238

2009

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16P Subtelomeric Duplication With Vascular Anomalies: An Albanian Case Report And Literature Review

Molecular Genetic Characterization of β-Thalassemia and Sickle Cell Syndrome in the Albanian Population

Clinical and molecular findings in an Albanian family with familial adenomatous polyposis

The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation

Research Article A targeted NGS approach to identify a c.352C>G variant in the TWIST1 gene in an Albanian family with Saethre–Chotzen syndrome

Clinical and molecular findings in an Albanian family with familial adenomatous polyposis

Molecular Genetic Characterization of [beta]-Thalassemia and Sickle Cell Syndrome in the Albanian Population

16p subtelomeric duplication with vascular anomalies: an Albanian case report and literature review

Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study

Genetic Diagnosis of Chromosomal Congenital Anomalies in Albanian Pediatric Patients by Array CGH

A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients

Turner syndrome in Albania and the efficacy of its treatment with growth hormone

Epileptic Seizures Associated with Chromosomal Abnormalities Detected by Array Comparative Genomic Hybridization in Five Albanian Children

A targeted NGS approach to identify a c.352C>G variant in the TWIST1 gene in an Albanian family with Saethre–Chotzen syndrome

Research Article Clinical and molecular findings in an Albanian family with familial adenomatous polyposis

A Pilot Beta-Thalassaemia Screening Program in the Albanian Population for a Health Planning Program

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