Tetraphocomelia and neonatal amegakaryocytic thrombocytopenia.
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Chromosome Aberrations↗
Biomedical subjects
R A Pfeiffer
Publications and source records attributed to R A Pfeiffer.
Partial trisomy 14 following a balanced reciprocal translocation t(14q-;21q+).
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Chromosome Aberrations↗
An atypical case of Cockayne's syndrome.
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Abnormalities, Multiple↗
Epiphyseal dysplasia of the femoral head, severe myopia and perceptive hearing loss in three brothers.
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Child↗
Origin of 48,XXXY: the evidence of the Xg blood groups.
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Adult↗
[EEG findings in Turner's syndrome].
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Adolescent↗
[Risk of repetition in families with a mongoloid child].
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Down Syndrome↗
[Balanced translocation t(15q-;16p+) as cause of habitual abortions].
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Abortion, Habitual↗
[Ring chromosome 8 (46,XY, 8 r) in a boy with debility (author's transl)].
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Child↗
[Mohr and Claussen's syndrome (author's transl)].
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Abnormalities, Multiple↗
[The distribution of heterochromatin in human metaphase chromosomes].
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Cell Division↗
[Hypothalamo-hypophyseal dwarfism with inner ear deafness in 2 sisters].
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Adrenal Cortex Hormones↗
[Clinical, pathological, and biochemical studies in a case of infantile generalized gangliosidosis (G M1 -mucolipidosis]].
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Bone Marrow↗
Cytogenetic studies in families with two 47, +21-siblings.
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Adolescent↗
[The oro-facial-digital syndrome. Symptoms and prognosis].
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Abnormalities, Multiple↗
[Freeman-Sheldon syndrome. Three new observations].
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Adult↗
[On the inheritance of mandibulofaciaal dysostosis].
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Child, Preschool↗
[Fluorescent microscopy detection of human Y-chromosome in interphase nuclei using acridine derivatives ("atebrin", "acranil")].
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Acridines↗