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REPORTS: Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity
by
Robin, Nathaniel H.
,
Feldman, George J.
,
Mitchell, Heather F.
,
Lorenz, Peter
,
Wilroy, R.Sid
,
Zackal, Elaine H.
,
AIIanson, Judith E.
,
Reich, Elsa W.
,
Pfeiffer, Rudolf A.
,
Clarke, Lome A.
,
Warmani, Matthew L.
,
Mulliken, John B.
,
Brueton, Louise A.
,
Winter, Robin M.
,
Price, R.Arien
,
Gasser, David L.
,
Muenke, Maximilian
Published in
Human molecular genetics
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REPORTS
by
Robin, Nathaniel H.
,
Feldman, George J.
,
Mitchell, Heather F.
,
Lorenz, Peter
,
Wilroy, R.Sid
,
Zackal, Elaine H.
,
AIIanson, Judith E.
,
Reich, Elsa W.
,
Pfeiffer, Rudolf A.
,
Clarke, Lome A.
,
Warmani, Matthew L.
,
Mulliken, John B.
,
Brueton, Louise A.
,
Winter, Robin M.
,
Price, R.Arien
,
Gasser, David L.
,
Muenke, Maximilian
Published in
Human molecular genetics
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Hypomelanosis of Ito and a ‘mirror image’ whole chromosome duplication resulting in trisomy 14 mosaicism
by
Tunca, Yusuf
,
Wilroy, R.Sid
,
Kadandale, Jayarama S
,
Martens, Paula R
,
Gunther, Wendy M
,
Tharapel, Avirachan T
Published in
Annales de génétique
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Human Molecular Genetics
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Annales De Génétique
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Abnormalities, Multiple - Genetics
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Agenesis Of Corpus Callosum
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Biological And Medical Sciences
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Chromosome Mapping
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Chromosome Mosaicism
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Chromosomes, Human, Pair 14
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Congenital Anomalies
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Dermatology
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Female
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Genetics & Heredity
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Humans
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Hypomelanosis Of Ito
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In Situ Hybridization, Fluorescence
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Infant, Newborn
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Karyotyping
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Life Sciences & Biomedicine
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Male
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Medical Sciences
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Mental Retardation
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Mosaicism
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Sciencedirect Freedom Collection 2022-2024
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