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Rittinger, Olaf
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1

Mutations in Epigenetic Regulation Genes Are a Major Cause ..:

Tatton-Brown, Katrina ; Loveday, Chey ; Yost, Shawn...
The American Journal of Human Genetics.  100 (2017)  5 - p. 725-736 , 2017
Link: https://doi.org/10.1016/..
 
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2

A defect in the inner kinetochore protein CENPT causes a ne..:

Hung, Christina Y. ; Volkmar, Barbara ; Baker, James D....
PLOS ONE.  12 (2017)  12 - p. e0189324 , 2017
Link: https://doi.org/10.1371/..
 
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3

Seizures, enamel defects and psychomotor developmental dela..:

Morscher, Raphael Johannes ; Rauscher, Christian ; Sperl, Wolfgang.
Seizure.  50 (2017)  - p. 118-120 , 2017
Link: https://doi.org/10.1016/..
 
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4

Mutations in chromatin regulators functionally link Corneli..:

Parenti, Ilaria ; Teresa-Rodrigo, María E. ; Pozojevic, Jelena...
Human Genetics.  136 (2017)  3 - p. 307-320 , 2017
Link: https://doi.org/10.1007/..
 
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5

Bainbridge–Ropers syndrome caused by loss-of-function varia..:

Kuechler, Alma ; Czeschik, Johanna Christina ; Graf, Elisabeth...
European Journal of Human Genetics.  25 (2016)  2 - p. 183-191 , 2016
Link: https://doi.org/10.1038/..
 
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6

Clinical, cytogenetic, and molecular findings in a patient ..:

Rittinger, Olaf ; Krabichler, Birgit ; Kronberger, Gabriela.
European Journal of Medical Genetics.  58 (2015)  11 - p. 603-607 , 2015
Link: https://doi.org/10.1016/..
 
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7

ADAMTSL4‐associated isolated ectopia lentis: Further patien..:

Neuhann, Teresa M. ; Stegerer, Annette ; Riess, Angelika...
American Journal of Medical Genetics Part A.  167 (2015)  10 - p. 2376-2381 , 2015
Link: https://doi.org/10.1002/..
 
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8

Cutaneous manifestations in trisomy 13 mosaicism: A rare ca..:

Wieser, Iris ; Wohlmuth, Christoph ; Rittinger, Olaf..
American Journal of Medical Genetics Part A.  167 (2015)  10 - p. 2294-2299 , 2015
Link: https://doi.org/10.1002/..
 
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9

Females with de novo aberrations in PHF6: Clinical overlap ..:

Zweier, Christiane ; Rittinger, Olaf ; Bader, Ingrid...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  166 (2014)  3 - p. 290-301 , 2014
Link: https://doi.org/10.1002/..
 
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10

A Newly Discovered TSHR Variant (L665F) Associated With Non..:

Jaeschke, Holger ; Schaarschmidt, Joerg ; Eszlinger, Markus...
The Journal of Clinical Endocrinology & Metabolism.  99 (2014)  10 - p. E2051-E2059 , 2014
Link: https://doi.org/10.1210/..
 
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11

Single-Nucleotide Polymorphism Array-Based Characterization..:

Spreiz, Ana ; Guilherme, Roberta S. ; Castellan, Claudio...
The Journal of Pediatrics.  163 (2013)  4 - p. 1174-1178.e3 , 2013
Link: https://doi.org/10.1016/..
 
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12

Hepatoblastoma in a 4‐year‐old girl with Fanconi anaemia:

Kopic, Sascha ; Eirich, Katharina ; Schuster, Beatrice...
Acta Paediatrica.  100 (2011)  5 - p. 780-783 , 2011
Link: https://doi.org/10.1111/..
 
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13

Common and recurrent HPGD mutations in Caucasian individual..:

Diggle, Christine P. ; Carr, Ian M. ; Zitt, Emanuel...
Rheumatology.  49 (2010)  6 - p. 1056-1062 , 2010
Link: https://doi.org/10.1093/..
 
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14

Histology and synchrotron radiation‐based microtomography o..:

Glueckert, Rudolf ; Rask‐Andersen, Helge ; Sergi, Consolato...
American Journal of Medical Genetics Part A.  152A (2010)  3 - p. 665-673 , 2010
Link: https://doi.org/10.1002/..
 
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15

The changing phenotype in diploid/triploid mosaicism may mi..:

Rittinger, Olaf ; Kronberger, Gabriela ; Pfeifenberger, Andrea..
European Journal of Medical Genetics.  51 (2008)  6 - p. 573-579 , 2008
Link: https://doi.org/10.1016/..
 
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