Published in Cesk Neurol Neurochir on September 01, 1974
Diseases of phenylalanine metabolism. West J Med (1979) 0.75
The syndrome of pits of the lower lip and cleft lip and/or palate. Genetic considerations. Am J Hum Genet (1967) 2.32
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member. Nat Genet (1996) 2.11
Successful bone-marrow transplantation for infantile malignant osteopetrosis. N Engl J Med (1980) 1.95
Classification and birth prevalence of orofacial clefts. Am J Med Genet (1998) 1.83
Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. Am J Dis Child (1970) 1.76
Popliteal pterygium syndrome . A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies. Pediatrics (1968) 1.62
Coliphages as ecological indicators of enteroviruses in various water systems. Bull World Health Organ (1981) 1.55
Patterns of DNA replication of human chromosomes. II. Replication map and replication model. Am J Hum Genet (1982) 1.45
Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid--a syndrome. Cancer (1968) 1.41
Malformation syndromes. A selected miscellany. Birth Defects Orig Artic Ser (1975) 1.35
Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia. Pediatrics (1981) 1.27
Down syndrome due to partial trisomy 21q. Clin Genet (1977) 1.18
Spectral analysis of the heart rate variability in sleep. Physiol Res (2004) 1.17
Cell line derived from a metastasis of a human testicular germ cell tumor. Cancer Res (1980) 1.10
Seckel's dwarfism: analysis of chromosome breakage and sister chromatid exchanges. Am J Dis Child (1979) 1.07
Facial clefting and its syndromes. Birth Defects Orig Artic Ser (1971) 1.06
Human genotoxicity: pesticide applicators and phosphine. Science (1989) 1.03
Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer. J Hepatol (2000) 1.00
Elevated sister chromatid exchange rate in lymphocytes of subjects treated with arsenic. Hum Genet (1977) 0.98
Cranio-carpo-tarsal dysplasia or the whistling face syndrome. II. Oral intercommissural distance in children. Am J Dis Child (1969) 0.97
Characterization of a cell line from human transitional cell cancer of the urinary tract. J Natl Cancer Inst (1974) 0.97
Prevalence o f malocclusion in Chippewa Indian children. J Dent Res (1968) 0.96
A quantitative polygraphic study of daytime somnolence and sleep in patients with excessive diurnal sleepiness. Schweiz Arch Neurol Neurochir Psychiatr (1984) 0.96
Chromosome rearrangements in fumigant appliers: possible relationship to non-Hodgkin's lymphoma risk. Cancer Epidemiol Biomarkers Prev (1993) 0.94
A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. Hum Genet (1989) 0.94
[Pacemaker's twiddler syndrome (author's transl)]. Med Klin (1979) 0.92
FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome. Am J Med Genet (1998) 0.92
Albinism in Nigeria with delineation of new recessive oculocutaneous type. Clin Genet (1980) 0.91
Cytogenetic differentiation of Fanconi anemia, "idiopathic" aplastic anemia, and Fanconi anemia heterozygotes. Am J Med Genet (1983) 0.91
Pattern of chromosomal replication in synchronized lymphocytes. I. Evaluation and application of methotrexate block. Hum Genet (1980) 0.90
Oculocerebrorenal syndrome in a female child. Am J Dis Child (1967) 0.90
Studies on the transformation of rat embryo cells of low passage by carcinogenic fluorenylhydroxamic acids and their acetate esters. In Vitro (1978) 0.90
Taurodontism: an anomaly of teeth reflecting disruptive developmental homeostasis. Am J Med Genet Suppl (1988) 0.89
[Heredity of fistulas of the lower lip and their relation to cleft lip and palate]. Cesk Pediatr (1966) 0.89
Chromosomes and spray adhesivess. N Engl J Med (1974) 0.88
Sister chromatid exchange in dyskeratosis congenita lymphocytes. J Med Genet (1977) 0.88
[Congenital dysplasia of the musculi pectorales associated with congenital hand and finger malformations of the ipsilateral upper limb]. Acta Chir Orthop Traumatol Cech (1966) 0.87
Sister chromatid exchange in lymphocytes from patients with malignant lymphoma. Hum Genet (1978) 0.86
Trisomy 22 with 'cat eye' anomaly. J Med Genet (1977) 0.85
Interstitial deletion of 10q: clinical features and literature review. Am J Med Genet (1992) 0.85
Synthesis of unsaturated carnitine esters with N-acyl imidazoles. J Lipid Res (1982) 0.84
Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection. Clin Chim Acta (1991) 0.84
Analysis of growth curves of fowl. I. Chickens. Br Poult Sci (1991) 0.83
Prevalence of nosocomial infections in selected hospitals. J Hyg Epidemiol Microbiol Immunol (1987) 0.83
Oculodentodigital dysplasia. Acta Chir Plast (1977) 0.82
Hormone-sensitive adenylate cyclase in human colonic mucosa. Digestion (1978) 0.82
Craniocarpotarsal dysplasia or whistling face syndrome. Arch Otolaryngol (1970) 0.81
X-chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of "Paine syndrome"? Humangenetik (1973) 0.81
Partial trisomy 4q syndrome: case report and review. Hum Genet (1976) 0.81
Psychotropic drugs and ovarial cycle alterations. Act Nerv Super (Praha) (1974) 0.80
Mutagenic activity of anticancer agent cis-dichlorodiammine platinum-II. Mutat Res (1979) 0.80
Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. Hum Mutat (2002) 0.80
[Clinical picture of homocystinuria with cystathionine beta-synthase deficiency in 19 Czech and Slovak patients]. Cas Lek Cesk (2000) 0.80
Cerebrospinal fluid. Adv Clin Chem (2001) 0.80
Is the common 844ins68 polymorphism in the cystathionine beta-synthase gene associated with atherosclerosis? J Inherit Metab Dis (1999) 0.80
An alternative to the multiple sleep latency test for determining sleepiness in narcolepsy and hypersomnia: polygraphic score of sleepiness. Sleep (1986) 0.80
Appearance of the rat testicular receptor for calcitriol (1,25-dihydroxyvitamin D3) during development. J Steroid Biochem (1985) 0.80
Genetic determinants of folate status in Central Bohemia. Physiol Res (2005) 0.80
DNA replication and inactivation patterns in structural abnormality of sex chromosomes. I.X-A translocations, rings, fragments, isochromosomes, and pseudo-isodicentrics. Hum Genet (1984) 0.80
Chromosomal breaks in T and B lymphocytes in Fanconi's anemia. Clin Genet (1976) 0.80
[Sleep disorders and the 24-hour profile of melatonin and cortisol]. Sb Lek (2000) 0.80
Increased micronuclei frequencies in couples with reproductive failure. Reprod Toxicol (2000) 0.79
Fluorescing structures of human metaphase chromosomes. Detection of "Y body". Am J Hum Genet (1971) 0.79
Properties of cell lines established from transitional cell cancers of the human urinary tract. Cancer Res (1977) 0.79
Familial leukemia and inherited chromosomal aberration. Int J Cancer (1977) 0.79
A clinical and polygraphic study of the effect of a new imidazo-quinazoline derivative in narcolepsy-cataplexy. The relationship between the antidepressant and anticataplectic effects of the drug. Act Nerv Super (Praha) (1972) 0.79
Increased REM density in narcolepsy-cataplexy and the polysymptomatic form of idiopathic hypersomnia. Sleep (2001) 0.79
Mevalonic aciduria. J Inherit Metab Dis (1991) 0.78
Syndromes of facial clefting. Scand J Plast Reconstr Surg (1974) 0.78
[Hemodynamic changes due to single and coupled stimulation in patients with obstructive cardiomyopathy]. Verh Dtsch Ges Inn Med (1975) 0.78
Fixation of spinal reflexes in rats by central and peripheral sensory input. J Comp Physiol Psychol (1981) 0.78
"Newer" facial clefting syndromes. Birth Defects Orig Artic Ser (1977) 0.78
[Diagnostic significance of the test with ferric chloride in the urine in phenylketonuria]. Cesk Pediatr (1969) 0.78
Sister chromatid exchange in patients with viral disease. Exp Cell Res (1978) 0.78
Seizures in sleep apnea patients: occurrence and time distribution. Sb Lek (2000) 0.78
Electromagnetic field of mobile phones affects visual event related potential in patients with narcolepsy. Bioelectromagnetics (2001) 0.78
[Periodic limb movements in sleep: polysomnographic and actigraphic methods for their detection]. Cas Lek Cesk (2005) 0.78
Paroxysmal hemipareses in childhood. Dev Med Child Neurol (1979) 0.77
'Homocystinuria' and urinary excretion of beta-amino acids in patients treated with 6-azauridine. Clin Chim Acta (1969) 0.77
Surface charge effects in protein adsorption on nanodiamonds. Nanoscale (2015) 0.77
Retinoblastoma and its association with a deletion in chromosome #13: a survey using high-resolution chromosome techniques. Cancer Genet Cytogenet (1982) 0.77
Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the 'Prague NCL group'. Eur J Paediatr Neurol (1997) 0.77
Primary cystathioninuria in an infant born out of incest. Acta Univ Carol Med Monogr (1977) 0.77
Inhibition of human colonic adenylate cyclase by RMI 12330 A. Digestion (1978) 0.77
MESAM4 evaluated nocturnal respiration disturbances in myasthenia gravis. Sb Lek (1996) 0.77
Speech and language disorders in histidinaemia and other amino acid disturbances. J Inherit Metab Dis (1985) 0.77
Delineation of 13q-deletion by replication banding in retinoblastoma. Cytogenet Cell Genet (1981) 0.77
[Lysosomal acid lipase deficiency. Overview of Czech patients]. Cas Lek Cesk (1999) 0.77
[Cultivation of amniotic fluid cells and prenatal diagnosis]. Cesk Gynekol (1971) 0.77
[The attitude of family members with polycystic kidney disease to the disease and presymptomatic testing]. Cas Lek Cesk (1994) 0.77
Contrasting renal haemodynamic responses to the angiotensin converting enzyme inhibitor enalapril and the beta-adrenergic antagonist metoprolol in essential hypertension. J Hypertens Suppl (1984) 0.76
Alternating hemiplegia in childhood: a cross-sectional study. Brain Dev (1994) 0.76
Effect of sodium fluoride on growth of human diploid cells in culture. Pharmacol Toxicol (1990) 0.76
[Socioeconomic consequences of narcolepsy. Comparative study of 3 populations in various countries]. Cesk Neurol Neurochir (1987) 0.76
Central and peripheral influences on retention of postural asymmetry in rats. J Comp Physiol Psychol (1982) 0.76
Ring chromosome 14 and immunoglobulin locus. Am J Med Genet (1984) 0.76
Activation of EEG recordings by graded sleep deprivation. Schweiz Arch Neurol Psychiatr (1986) 0.76
Effects of fosenopril, a once-daily angiotensin-converting enzyme inhibitor, on resting and exercise-induced changes of blood pressure, hormonal variables, and plasma potassium in essential hypertension. Am J Hypertens (1988) 0.76