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A de novo loss‐of‐function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa

Clinical genetics, 2018-05, Vol.93 (5), p.1107-1108

2018

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Pontine tegmental cap dysplasia: a hindbrain malformation caused by defective neuronal migration

Neurology, 2010-06, Vol.74 (22), p.1835-1835

2010

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Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation

Neurology, 2006-12, Vol.67 (11), p.2073-2075

2006

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Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene

American journal of medical genetics. Part A, 2005-11, Vol.138A (4), p.379-383

2005

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Familial case of paroxysmal nonkinesigenic dyskinesia caused by mutation inMR-1 gene – evidence for reduced penetrance and implications for treatment

European journal of paediatric neurology, 2008, Vol.12, p.S50-S50

2008

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Clinical characteristics of carriers of a GAG deletion in the DYT1 gene amongst Polish patients with primary dystonia

European journal of neurology, 2007-06, Vol.14 (6), p.659-662

2007

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Duchenne muscular dystrophy (DMD) in a girl with balanced translocation (X;3)(p21.1;p13) and psychomotor delay

European journal of paediatric neurology, 2008, Vol.12, p.S54-S55

2008

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Duplication of the MECP2 genomic region as a cause of mental retardation infive males – application of novel diagnostic techniques

European journal of paediatric neurology, 2008, Vol.12, p.S46-S46

2008

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The ARX mutations: A frequent cause of X-linked mental retardation

American journal of medical genetics. Part A, 2006-04, Vol.140A (7), p.727-732

2006

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Immunomorphological studies and cytometric DNA ploidy in diagnostics of pheochromocytoma

Polish journal of pathology, 2000, Vol.51 (2), p.83

2000

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Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene

American journal of medical genetics, 2005, Vol.138A (4), p.379-383

2005

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Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene

American Journal of Medical Genetics Part A, 2005, Vol.138A (4), p.379-383

2005

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Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

Nature communications, 2019-07, Vol.10 (1), p.2966-14, Article 2966

2019

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Developmental epileptic encephalopathy in DLG4‐related synaptopathy

Epilepsia (Copenhagen), 2024-04, Vol.65 (4), p.1029-1045

2024

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A de novo loss‐of‐function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa

Pontine tegmental cap dysplasia: a hindbrain malformation caused by defective neuronal migration

Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation

Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene

Familial case of paroxysmal nonkinesigenic dyskinesia caused by mutation inMR-1 gene – evidence for reduced penetrance and implications for treatment

Clinical characteristics of carriers of a GAG deletion in the DYT1 gene amongst Polish patients with primary dystonia

Duchenne muscular dystrophy (DMD) in a girl with balanced translocation (X;3)(p21.1;p13) and psychomotor delay

Duplication of the MECP2 genomic region as a cause of mental retardation infive males – application of novel diagnostic techniques

The ARX mutations: A frequent cause of X-linked mental retardation

Immunomorphological studies and cytometric DNA ploidy in diagnostics of pheochromocytoma

Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene

Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene

Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

Developmental epileptic encephalopathy in DLG4‐related synaptopathy

Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by Polish Society of Human Genetics and Cardiovascular Patient Communities

Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4–Associated Hereditary Spastic Paraplegia

ERRATUM: Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by Polish Society of Human Genetics and Cardiovascular Patient Communities

ERRATUM: Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by Polish Society of Human Genetics and Cardiovascular Patient Communities

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