Published in Clin Genet on September 01, 1993
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Mitochondrial inheritance in a mitochondrially mediated disease. N Engl J Med (1983) 2.08
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Anthropometric definitions of dysmorphic facial signs. Hum Genet (1984) 0.97
Further delineation of the branchio-oculo-facial syndrome. Am J Med Genet (1995) 0.97
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A dietary management of severe childhood migraine. Hum Nutr Appl Nutr (1985) 0.92
Progressive neuronal degeneration of childhood with liver disease ("Alpers' disease"): characteristic neurophysiological features. Neuropediatrics (1986) 0.92
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The dermatoglyphic pattern of the trisomy 10p syndrome. Clin Genet (1978) 0.88
New chromosomal dysmorphic syndromes. 3. Partial trisomy 3q. Eur J Pediatr (1979) 0.87
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A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p). Cytogenet Cell Genet (2000) 0.86
Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome. Am J Med Genet (1993) 0.86
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Mitochondrial cytopathy or Leigh's syndrome? Mitochondrial abnormalities in Spongiform encephalopathies. Neuropediatrics (1982) 0.86
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Progressive neuronal degeneration of childhood with liver disease. Computed tomographic features. Neuroradiology (1987) 0.82
Cortical subacute necrotizing encephalomyelopathy. A study of two patients with mitochondrial dysfunction. Neuropediatrics (1984) 0.82
Magnesium for hyperventilation in Rett's syndrome. Lancet (1992) 0.81
Endocrine disorders in septo-optic dysplasia (De Morsier syndrome)--evaluation and follow up of 18 patients. Eur J Pediatr (1996) 0.81
Experiences with risk estimates for carriers of chromosomal reciprocal translocations. Clin Genet (1992) 0.81
Risk for short arm 10 trisomy. A segregation analysis of eleven families with different translocations. Hum Genet (1977) 0.81
Reproduction in a female patient with Down's syndrome. Case report of a 46, XY child showing slight phenotypical anomalies, born to a 47, XX, + 21 mother. Humangenetik (1975) 0.80
45,X constitution in a H-Y antigen positive boy with partial monosomy 5p. Clin Genet (1981) 0.80
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Two brothers with multiple congenital anomalies and mental retardation due to disomy (X)(q12-->q13.3) inherited from the mother. Clin Genet (1996) 0.79
A reanalysis of the New York State prenatal diagnosis data on Down's syndrome and paternal age effects. Hum Genet (1987) 0.79
Topographic mapping of brain electrical activity in children with food-induced attention deficit hyperkinetic disorder. Eur J Pediatr (1997) 0.79
MRI of primary meningeal sarcomas in two children: differential diagnostic considerations. Neuroradiology (1997) 0.79
Tetrasomy 18p caused by paternal meiotic nondisjunction. Eur J Hum Genet (1997) 0.78
Multiaxial mechanical behavior of human fetal membranes and its relationship to microstructure. Biomech Model Mechanobiol (2012) 0.78
Combined biaxial and uniaxial mechanical characterization of prosthetic meshes in a rabbit model. J Biomech (2013) 0.78
A (1;21) balanced translocation in a male with mucopolysaccharidosis type IIIA. Repository identification No. GM1881. Cytogenet Cell Genet (1980) 0.78
A familial deletion in the Prader-Willi syndrome region including the imprinting control region. Hum Mutat (1996) 0.78
New limit on the lepton-flavor-violating decay μ+→e+γ. Phys Rev Lett (2011) 0.77
New chromosomal dysmorphic syndromes. 4. Trisomy 12p. Eur J Pediatr (1981) 0.77
Integrating consultation and semi-automatic knowledge acquisition in a prototype-based architecture: experiences with dysmorphic syndromes. Artif Intell Med (1994) 0.77
Computed tomography in mitochondrial cytopathy. Neuroradiology (1981) 0.76
[Psychogenic aspects of functional dysphonia]. Folia Phoniatr (Basel) (1993) 0.76
[Myocardial infarct promoting type A behavior--an attempt to modify stress-inducing behavior]. Rehabilitation (Stuttg) (1986) 0.76
Childhood hypertrichosis: diagnosis and management. Arch Dis Child (1995) 0.75
Progressive spastic paraplegia due to persistent echo virus encephalomyelitis in a child with X-linked hypogammaglobulinaemia. J Neurol Neurosurg Psychiatry (1982) 0.75
Letter: Klinefelter's syndrome in a fetus. Lancet (1974) 0.75
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The coping process with illness in patients with cardiovascular or cerebrovascular diseases: a new survey: EKV. Int J Rehabil Res (1984) 0.75
The role of acrocentric chromosomes in nucleolar organization. II. Constancy of the nucleolar area independent of the number of acrocentric chromosomes in meningioma cell cultures. Virchows Arch B Cell Pathol (1973) 0.75
Measurement of muon capture on the proton to 1% precision and determination of the pseudoscalar coupling gP. Phys Rev Lett (2013) 0.75
Search for lepton flavor violation in K+ decays into a charged pion and two leptons. Phys Rev Lett (2000) 0.75
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[Gonadal dysgenesis with an unusual structural anomaly in an X chromosome (45,X-46,XXq+)]. Humangenetik (1972) 0.75
Psychological risk factors in cardiovascular diseases. Theor Med (1986) 0.75
Routine G-banding in prenatal diagnosis of chromosomal disorders. Hum Genet (1976) 0.75
[Prenatal diagnosis of Sandhoff's disease (GM2-gangliosidosis, type 2)]. Dtsch Med Wochenschr (1975) 0.75
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[Induced abortion--a critical life change event]. Zentralbl Gynakol (1991) 0.75
A novel duplication of chromosome (13)(q14.1q21.3) in a patient with mental retardation and microcephaly. Genet Couns (2009) 0.75
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Quantitative electronic analysis of chromosome autoradiographs using a television image analysing computer. Exp Cell Res (1974) 0.75
[Possibilities of genetic counseling for prenatal diagnosis in pediatric practice]. Fortschr Med (1979) 0.75
[Chromosome studies on human fibroblast cultures following exposure to cyproheptadin]. Z Kinderheilkd (1975) 0.75
A (3;17) balanced translocation, 46 chromosomes. Repository identification No. GM-2808. Cytogenet Cell Genet (1979) 0.75
[Precancerous stages of cervix cancer (CIN)--attitude and coping with the disease]. Wien Klin Wochenschr (1992) 0.75
Observations with G bonding of human chromosomes. Reduction of dye concentration in Soerensen buffered solutions is sufficient for demonstrating G bands. Humangenetik (1974) 0.75
New measurement of K(+)(e4) decay and the s-pave pi pi-scattering length a(0)(0). Phys Rev Lett (2001) 0.75
The dermatoglyphic pattern of the trisomy 9p syndrome. Clin Genet (1979) 0.75
[Quantitative chromosome autoradiography--use of an electronic analytic method (television microscopy) for the study of the X-chromosomal heterocyclic behavior in man]. Acta Histochem Suppl (1976) 0.75
[MR angiography in neuropediatric problems: the technic and the clinical results]. Rofo (1992) 0.75
[Prenatal diagnosis. Part 1: Prenatal diagnostic centers; amniocentesis]. Fortschr Med (1978) 0.75
Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome. Genet Couns (2005) 0.75
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