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Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL – experience from Slovakia

Neurogenetics, 2023-01, Vol.24 (1), p.1-16

2023

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Trisomy 18 mimicking Smith-Lemli-Opitz syndrome in the immediate neonatal period

Bratislavské lékarské listy, 2003, Vol.104 (4-5), p.155-157

2003

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Lethal kyphomelic dysplasia

Journal of paediatrics and child health, 1996-04, Vol.32 (2), p.188-190

1996

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Variability in kyphomelic dysplasia

Pediatric radiology, 1999-07, Vol.29 (7), p.551-557

1999

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Familial incidence of congenital skin aplasia (author's transl)

Československá dermatologie, 1980, Vol.55 (6), p.400

Cisárik, F

1980

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Fetal hydantoin syndrome (author's transl)

Bratislavské lékarské listy, 1981-12, Vol.76 (6), p.714

1981

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Dermatoglyphic findings in Rubinstein-Taybi syndrome (author's transl)

Bratislavské lékarské listy, 1981-07, Vol.76 (1), p.61

1981

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Nijmegen breakage syndrome in Slovakia

Časopis lékařů českých, 2004, Vol.143 (8), p.538

2004

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Roentgenologic and cardiologic findings in Rubinstein-Taybi syndrome (author's transl)

Bratislavské lékarské listy, 1981-06, Vol.75 (6), p.693

1981

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Diastrophic dwarfism

Radiologia diagnostica, 1980, Vol.21 (6), p.795

1980

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Current statistical notification of congenital developmental defects and its use in medical genetics

Bratislavské lékarské listy, 1986-11, Vol.86 (5), p.501

1986

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Hereditary ectodermal dysplasia (author's transl)

Bratislavské lékarské listy, 1975-08, Vol.64 (2), p.232

1975

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The problem of hyperphenylalaninemias (author's transl)

Bratislavské lékarské listy, 1974-11, Vol.62 (5), p.612

1974

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Alkaptonuria in the Trenčín District of Czechoslovakia

American journal of medical genetics, 1978, Vol.2 (2), p.159-166

1978

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Various aspects of prenatal and perinatal reproductive loss

Bratislavské lékarské listy, 1985-06, Vol.83 (6), p.670

1985

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The effect of physical stress on rheological properties of blood

Sbornik lekarsky, 1995, Vol.96 (2), p.111

1995

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Hyperlipoproteinemia in patients hospitalized for ischemic coronary disease and myocardial infarct

Vnitřní lékar̆stvĭ, 1981-02, Vol.27 (2), p.137

1981

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Clinical and dermatoglyphic findings in children of epileptic mothers

Bratislavské lékarské listy, 1985-10, Vol.84 (4), p.444

1985

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Phenotypic variability of the appearance of asphyxiating thoracic dysplasia (author's transl)

Ceskoslovenska radiologie, 1982-01, Vol.36 (1), p.32

1982

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Synpolydactyly with a triphalangeal thumb--a new type of synpolydactyly?

Ceskoslovenska radiologie, 1986-05, Vol.40 (3), p.212

Cisárik, F

1986

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The syndrome of blepharophimosis, blepharoptosis, epicanthus inversus, and telecanthus (author's transl)

Bratislavské lékarské listy, 1975-03, Vol.63 (3), p.353

1975

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Hereditary nephropathy with loss of hearing--Alport's syndrome (author's transl)

Bratislavské lékarské listy, 1980-04, Vol.73 (4), p.504

1980

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Dermatoglyphic study of a family with diastrophic nanism

Československá pediatrie, 1980-12, Vol.35 (12), p.663

1980

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Familial penetrance of familial hyperlipoproteinemias

Vnitřní lékar̆stvĭ, 1980, Vol.26 (5), p.457

1980

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The occurrence of postoperative atrial fibrillation according to different surgical settings in cardiac surgery patients

Interactive cardiovascular and thoracic surgery, 2012-12, Vol.15 (6), p.1007-1012

2012

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Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL – experience from Slovakia

Trisomy 18 mimicking Smith-Lemli-Opitz syndrome in the immediate neonatal period

Lethal kyphomelic dysplasia

Variability in kyphomelic dysplasia

Familial incidence of congenital skin aplasia (author's transl)

Fetal hydantoin syndrome (author's transl)

Dermatoglyphic findings in Rubinstein-Taybi syndrome (author's transl)

Nijmegen breakage syndrome in Slovakia

Roentgenologic and cardiologic findings in Rubinstein-Taybi syndrome (author's transl)

Diastrophic dwarfism

Current statistical notification of congenital developmental defects and its use in medical genetics

Hereditary ectodermal dysplasia (author's transl)

The problem of hyperphenylalaninemias (author's transl)

Alkaptonuria in the Trenčín District of Czechoslovakia

Various aspects of prenatal and perinatal reproductive loss

The effect of physical stress on rheological properties of blood

Hyperlipoproteinemia in patients hospitalized for ischemic coronary disease and myocardial infarct

Clinical and dermatoglyphic findings in children of epileptic mothers

Phenotypic variability of the appearance of asphyxiating thoracic dysplasia (author's transl)

Synpolydactyly with a triphalangeal thumb--a new type of synpolydactyly?

The syndrome of blepharophimosis, blepharoptosis, epicanthus inversus, and telecanthus (author's transl)

Hereditary nephropathy with loss of hearing--Alport's syndrome (author's transl)

Dermatoglyphic study of a family with diastrophic nanism

Familial penetrance of familial hyperlipoproteinemias

The occurrence of postoperative atrial fibrillation according to different surgical settings in cardiac surgery patients

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