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Search Results - Razo‐Jiménez, G.
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Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy
by
Peña‐Padilla, C.
,
Marshall, C.R.
,
Walker, S.
,
Scherer, S.W.
,
Tavares‐Macías, G.
,
Razo‐Jiménez, G.
,
Bobadilla‐Morales, L.
,
Acosta‐Fernández, E.
,
Corona‐Rivera, A.
,
Mendoza‐Londono, R.
,
Corona‐Rivera, J. R.
Published in
Clinical genetics
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Clinical Genetics
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C-Syndrome
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Carrier Proteins - Genetics
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Ciliopathies - Diagnosis
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Ciliopathies - Genetics
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Ciliopathies - Physiopathology
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Craniosynostoses - Diagnosis
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Craniosynostoses - Genetics
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Craniosynostoses - Physiopathology
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Craniosynostosis
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C‐Syndrome
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Exome - Genetics
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Female
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Genetic Disorders
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Genetic Predisposition To Disease
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Genetics & Heredity
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Heterozygote
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High-Throughput Nucleotide Sequencing
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Humans
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Ift140
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Intellectual Disability - Diagnosis
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Wiley-Blackwell Journals
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Wiley Online Library - Autoholdings Journals
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