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Search Results - Maylahn, Carina
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Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
by
Kuechler, Alma
,
Zink, Alexander M
,
Wieland, Thomas
,
Lüdecke, Hermann-Josef
,
Cremer, Kirsten
,
Salviati, Leonardo
,
Magini, Pamela
,
Najafi, Kimia
,
Zweier, Christiane
,
Czeschik, Johanna Christina
,
Aretz, Stefan
,
Endele, Sabine
,
Tamburrino, Federica
,
Pinato, Claudia
,
Clementi, Maurizio
,
Gundlach, Jasmin
,
Maylahn, Carina
,
Mazzanti, Laura
,
Wohlleber, Eva
,
Schwarzmayr, Thomas
,
Kariminejad, Roxana
,
Schlessinger, Avner
,
Wieczorek, Dagmar
,
Strom, Tim M
,
Novarino, Gaia
,
Engels, Hartmut
Published in
European journal of human genetics : EJHG
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European Journal Of Human Genetics
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European Journal Of Human Genetics : Ejhg
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Adolescent
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Amino Acid Sequence
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Biochemistry & Molecular Biology
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Child
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Child, Preschool
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Chromosome Deletion
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Chromosomes, Human, Pair 3 - Genetics
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Clonal Deletion
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Codon, Nonsense
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Crispr
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Dna Microarrays
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Exome
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Female
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Genetics & Heredity
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Haploinsufficiency
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Histone Methyltransferase
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Humans
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Intellectual Disabilities
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Intellectual Disability - Genetics
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