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Case Report of Suspected Gonadal Mosaicism in FOXP1 -Related Neurodevelopmental Disorder

International journal of molecular sciences, 2024-06, Vol.25 (11), p.5709

2024

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Revealing the impact of the Caucasus region on the genetic legacy of Romani people from genome-wide data

PloS one, 2018-09, Vol.13 (9), p.e0202890-e0202890

2018

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Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions

Frontiers in genetics, 2021-06, Vol.12, p.673025-673025

2021

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Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients

International journal of molecular sciences, 2019-10, Vol.20 (19), p.4935

2019

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Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation

Frontiers in genetics, 2021-04, Vol.12, p.635458-635458

2021

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Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy

Seizure (London, England), 2020-01, Vol.74, p.8-13

2020

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Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect

Clinical dysmorphology, 2019-07, Vol.28 (3), p.137-139

2019

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Jumping translocation of 15q24-qter resulting in partial trisomy: A case report

Gene, 2012-07, Vol.503 (1), p.155-159

2012

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Severe dystrophy in DiGeorge syndrome

World journal of gastroenterology : WJG, 2009-03, Vol.15 (11), p.1391-1393

Barnabas Rózsai Akos Kiss Gyǒrgyi Csábi Mārta Czakó Tamás Decsi

2009

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Influence of genetic polymorphisms on bone disease of preterm infants

Pediatric research, 2006-11, Vol.60 (5), p.607-612

2006

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Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene

American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.443-449

2018

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A 22-es csapdája? A 22q11 kromoszóma deletiós szindróma változatos klinikai megjelenése két eset kapcsán

Orvosi hetilap, 2015-11, Vol.156 (45), p.1834-1838

2015

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Ritka genomikai betegségek azonosítása array komparatív genomhibridizációs módszerrel – elsőként Magyarországon

Orvosi hetilap, 2014-03, Vol.155 (9), p.358-361

2014

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Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome

Molecular cytogenetics, 2015-03, Vol.8 (1), p.16-16, Article 16

2015

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Partial Trisomy of the Pericentromeric Region of Chromosome 5 in a Girl with Binder Phenotype

Cytogenetic and genome research, 2014-01, Vol.144 (3), p.190-195

2014

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Catch-22? Wide variety of phenotypes associated with the chromosome 22q11 deletion syndrome in two patients

Orvosi hetilap, 2015-11, Vol.156 (45), p.1834

2015

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Rapid diagnosis of fetal chromosomal abnormalities by fluorescence in situ hybridization

Orvosi hetilap, 2007-07, Vol.148 (30), p.1401

2007

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Rapid diagnosis of fetal chromosomal abnormalities by fluorescence in situ hybridization

Orvosi hetilap, 2007-07, Vol.148 (30), p.1401-1404

2007

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Attention deficit hyperactivity disorder analyzed with array comparative genome hybridization method. Case report

Orvosi hetilap, 2014-10, Vol.155 (40), p.1598-1601

2014

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Identifying rare genomic disorders with array comparative genomic hybridization in Hungary

Orvosi hetilap, 2014-03, Vol.155 (9), p.358

2014

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DNS Hibridizációs Módszerek Alkalmazása a Klinikai Cytogenetikában

Czakó, Márta

2005

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α-thalassemia/mental retardation syndrome in a 45,X male: 45,X Karyotype in a Male

American journal of medical genetics. Part A, 2005-02, Vol.132A (4), p.431-433

2005

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Metabolic bone disease in premature infants and genetic polymorphisms

Orvosi hetilap, 2007-10, Vol.148 (41), p.1957

2007

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Metabolic bone disease in premature infants and genetic polymorphisms

Orvosi hetilap, 2007-10, Vol.148 (41), p.1957-1965

2007

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Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia

Clinical dysmorphology, 2003-04, Vol.12 (2), p.123-127

2003

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Case Report of Suspected Gonadal Mosaicism in FOXP1 -Related Neurodevelopmental Disorder

Revealing the impact of the Caucasus region on the genetic legacy of Romani people from genome-wide data

Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions

Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients

Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation

Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy

Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect

Jumping translocation of 15q24-qter resulting in partial trisomy: A case report

Severe dystrophy in DiGeorge syndrome

Influence of genetic polymorphisms on bone disease of preterm infants

Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene

A 22-es csapdája? A 22q11 kromoszóma deletiós szindróma változatos klinikai megjelenése két eset kapcsán

Ritka genomikai betegségek azonosítása array komparatív genomhibridizációs módszerrel – elsőként Magyarországon

Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome

Partial Trisomy of the Pericentromeric Region of Chromosome 5 in a Girl with Binder Phenotype

Catch-22? Wide variety of phenotypes associated with the chromosome 22q11 deletion syndrome in two patients

Rapid diagnosis of fetal chromosomal abnormalities by fluorescence in situ hybridization

Rapid diagnosis of fetal chromosomal abnormalities by fluorescence in situ hybridization

Attention deficit hyperactivity disorder analyzed with array comparative genome hybridization method. Case report

Identifying rare genomic disorders with array comparative genomic hybridization in Hungary

DNS Hibridizációs Módszerek Alkalmazása a Klinikai Cytogenetikában

α-thalassemia/mental retardation syndrome in a 45,X male: 45,X Karyotype in a Male

Metabolic bone disease in premature infants and genetic polymorphisms

Metabolic bone disease in premature infants and genetic polymorphisms

Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia

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