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Loss of the N-myc oncogene in a patient with a small interstitial deletion of the short arm of chromosome 2
- Pages: 373-377
- First Published: 30 December 1996
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Immunodeficiency as a component of recognizable syndromes
- Pages: 378-398
- First Published: 30 December 1996
Brief Clinical Reports
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Laryngeal malformations in the Richieri-Costa and pereira form of acrofacial dysostosis
- Pages: 399-402
- First Published: 30 December 1996
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Identification of mosaicism in Prader-Willi syndrome using fluorescent in situ hybridization
- Pages: 403-412
- First Published: 30 December 1996
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Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis
- Pages: 413-422
- First Published: 30 December 1996
Brief Clinical Reports
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Ullrich-Turner syndrome and neurofibromatosis-1
- Pages: 423-425
- First Published: 30 December 1996
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Robertsonian (15q;15q) translocation in a child with Angelman syndrome: Evidence of uniparental disomy
- Pages: 426-428
- First Published: 30 December 1996
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SPONASTRIME dysplasia: Report on a female patient with severe skeletal changes
- Pages: 429-432
- First Published: 30 December 1996
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Syntelencephaly in an infant of a diabetic mother
- Pages: 433-437
- First Published: 30 December 1996
Brief Clinical Reports
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Congenital pulmonary lymphangiectasia and other anomalies in a child: Provisionally unique syndrome?
- Pages: 438-440
- First Published: 30 December 1996
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An infant with a mosaic 45,X/46,X,psu dic(Y) (pter→q11.2:q11.2→pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads
- Pages: 441-444
- First Published: 30 December 1996
Brief Clinical Reports
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Autosomal dominant inheritance of Brachmann-de Lange syndrome
- Pages: 445-448
- First Published: 30 December 1996
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Brachmann-de Lange syndrome: Autosomal dominant inheritance and male-to-male transmission
- Pages: 449-452
- First Published: 30 December 1996
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Unusual complex of ventral midline anomalies: A multiple congenital anomalies/mental retardation syndrome
- Pages: 453-456
- First Published: 30 December 1996
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Craniofacial anomalies and malformations in respiratory chain deficiency
- Pages: 457-463
- First Published: 30 December 1996
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New form of platyspondylic lethal chondrodysplasia
- Pages: 464-467
- First Published: 30 December 1996
Letters to the Editor
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Phenotypic discordance in a family with monozygotic twins and non-syndromic cleft lip and palate
- Pages: 468-470
- First Published: 30 December 1996
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Academicians are more likely to share each other's toothbrush than each other's nomenclature [Cohen, 1982]
- Pages: 471-474
- First Published: 30 December 1996
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Transient neonatal arthrogryposis: Another case
- Page: 475
- First Published: 30 December 1996
Book Reviews
Rapid Publications
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Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: Does abnormal cholesterol metabolism affect the function of sonic hedgehog?
- Pages: 478-484
- First Published: 30 December 1996
Review
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With gratitude to the anonymous reviewers
- Pages: 485-492
- First Published: 30 December 1996