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Search Results - van Diepen, Mireille M.L
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A 797 kb de novo deletion of 18q21.31 in a patient with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies
by
van Diepen, Mireille M.L
,
Gijsbers, Antoinet C.J
,
Bosch, Cathy A.J
,
Oudesluys-Murphy, Anne Marie
,
Ruivenkamp, Claudia A.L
,
Bijlsma, Emilia K
Published in
European journal of medical genetics
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European Journal Of Medical Genetics
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18Q21.31 Deletion
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Abnormalities, Multiple - Genetics
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Abnormalities, Multiple - Pathology
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Adaptor Proteins, Signal Transducing - Genetics
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Child
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Chromosome Deletion
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Chromosomes, Human, Pair 18 - Genetics
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Developmental Delay
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Face - Abnormalities
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Foot Deformities, Congenital - Pathology
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Genetics & Heredity
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Haploinsufficiency
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Humans
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Intellectual Disability - Pathology
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Language Development Disorders - Pathology
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Life Sciences & Biomedicine
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Male
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Medical Education
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Science & Technology
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Sleep Wake Disorders - Pathology
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Sciencedirect Journals
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Sciencedirect Freedom Collection
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