Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
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Recent insights into the Smith-Lemli-Opitz syndrome.Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors.Malformation syndromes caused by disorders of cholesterol synthesis.Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.Mutational spectrum of Smith-Lemli-Opitz syndrome.The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote.Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.Smith-Lemli-Opitz syndrome.Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS].Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families.Smith-Lemli-Opitz syndrome among Arabs.
P2860
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P2860
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
description
2003 nî lūn-bûn
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2003年の論文
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年学术文章
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name
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
@en
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
@nl
type
label
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
@en
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
@nl
prefLabel
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
@en
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
@nl
P2093
P356
P1476
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
@en
P2093
Bwee Tien Poll-The
Fernanda A A Langius
Frits A Beemer
Gerrit Jan Romeijn
Hans R Waterham
Lambertus Dorland
Marinus Duran
Martina M J de Barse
Wendy Oostheim
P2860
P356
10.1002/AJMG.A.20207
P407
P577
2003-09-01T00:00:00Z