Works matching IS 00099163 AND DT 1992 AND VI 42 AND IP 3
Results: 12
Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features-another case of this new syndrome.
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- Clinical Genetics, 1992, v. 42, n. 3, p. 110, doi. 10.1111/j.1399-0004.1992.tb03220.x
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- Article
Leber hereditary optic neuropathy: estimation of number of embryonic precursor cells and disease threshold in heterozygous affected females at the X-linked locus.
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- Clinical Genetics, 1992, v. 42, n. 3, p. 143, doi. 10.1111/j.1399-0004.1992.tb03226.x
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X chromosome inactivation patterns in haematopoietic cells of female carriers of X-linked severe combined immunodeficiency determined by methylation analysis at the hypervariable DXS255 locus.
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- Clinical Genetics, 1992, v. 42, n. 3, p. 114, doi. 10.1111/j.1399-0004.1992.tb03221.x
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Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter.
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- Clinical Genetics, 1992, v. 42, n. 3, p. 129, doi. 10.1111/j.1399-0004.1992.tb03224.x
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Enzyme deficiencies as the cause of hereditary nonspherocytic hemolytic anemia.
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- Clinical Genetics, 1992, v. 42, n. 3, p. 160, doi. 10.1111/j.1399-0004.1992.tb03230.x
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Reassessment of a chromosome 12q + marker by fluorescent in situ hybridization (FISH).
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- Clinical Genetics, 1992, v. 42, n. 3, p. 124, doi. 10.1111/j.1399-0004.1992.tb03223.x
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- Article
Cleft palate and complex chromosome rearrangements.
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- Clinical Genetics, 1992, v. 42, n. 3, p. 135, doi. 10.1111/j.1399-0004.1992.tb03225.x
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- Article
Autosomal recessive microcephaly with early onset seizures and spasticity.
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- Clinical Genetics, 1992, v. 42, n. 3, p. 152, doi. 10.1111/j.1399-0004.1992.tb03228.x
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- Article
Putative monosomy 21 in two patients: clinical findings and investigation using fluorescence in situ hybridization.
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- Clinical Genetics, 1992, v. 42, n. 3, p. 105, doi. 10.1111/j.1399-0004.1992.tb03219.x
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- Article
The gene for Best's macular dystrophy is located at 11q13 in a Swedish family.
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- Clinical Genetics, 1992, v. 42, n. 3, p. 156, doi. 10.1111/j.1399-0004.1992.tb03229.x
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- Article
Reproductive behaviour following spontaneous loss of a pregnancy after prenatal diagnosis.
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- Clinical Genetics, 1992, v. 42, n. 3, p. 149, doi. 10.1111/j.1399-0004.1992.tb03227.x
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- Article
Prevalence of retinitis pigmentosa in Slovenia.
- Published in:
- Clinical Genetics, 1992, v. 42, n. 3, p. 122, doi. 10.1111/j.1399-0004.1992.tb03222.x
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- Article