Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: In: The American Journal of Human Genetics ; 109 (2022), 5. - S. 953-960. - Elsevier. - ISSN 0002-9297. - eISSN 1537-6605

Event: Veröffentlichung

(where): Konstanz

(who): KOPS Universität Konstanz

(when): 2022

Creator: Palles, Claire
West, Hannah D.
Chew, Edward
Galavotti, Sara
Flensburg, Christoffer
Grolleman, Judith E.
Jansen, Erik A.M.
Gruber, Andreas J.
Tomlinson, Ian P.M.
Sampson, Julian R.

URN: urn:nbn:de:bsz:352-2-1d86r4hdpo4l10

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 25.03.2025, 1:42 PM CET

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Associated

Palles, Claire
West, Hannah D.
Chew, Edward
Galavotti, Sara
Flensburg, Christoffer
Grolleman, Judith E.
Jansen, Erik A.M.
Gruber, Andreas J.
Tomlinson, Ian P.M.
Sampson, Julian R.
KOPS Universität Konstanz

Time of origin

2022

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Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

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Other Objects (12)

Functional studies of GATA2 germline mutations in GATA2-deficiency disorders

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Citrin deficiency mimicking mitochondrial depletion syndrome

Germline deletion of CIN85 in humans with X chromosome – linked antibody deficiency

Pathogenic bi-allelic mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency

Bekämpfung von AIDS (Acquired Immune Deficiency Syndrome)

CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome

Acquired immune deficiency syndrome : AIDS ; Symposium, Wien 1985

AIDS: Get the facts. Acquired Immune Deficiency Syndrome and you

Functional studies of GATA2 germline mutations in GATA2-deficiency disorders

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Acquired immune deficiency syndrome : AIDS

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Citrin deficiency mimicking mitochondrial depletion syndrome

Germline deletion of CIN85 in humans with X chromosome – linked antibody deficiency

Pathogenic bi-allelic mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency

Bekämpfung von AIDS (Acquired Immune Deficiency Syndrome)

CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome

Acquired immune deficiency syndrome : AIDS ; Symposium, Wien 1985

AIDS: Get the facts. Acquired Immune Deficiency Syndrome and you

Functional studies of GATA2 germline mutations in GATA2-deficiency disorders

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CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome

Acquired immune deficiency syndrome : AIDS ; Symposium, Wien 1985

AIDS: Get the facts. Acquired Immune Deficiency Syndrome and you

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