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Mitter, Diana
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1

Germline AGO2 mutations impair RNA interference and human n..:

Lessel, Davor ; Zeitler, Daniela M. ; Reijnders, Margot R. F....
Nature Communications.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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2

Structural brain anomalies in patients with FOXG1 syndrome ..:

Pringsheim, Milka ; Mitter, Diana ; Schröder, Simone...
Annals of Clinical and Translational Neurology.  6 (2019)  4 - p. 655-668 , 2019
Link: https://doi.org/10.1002/..
 
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3

Next-generation sequencing of 32 genes associated with here..:

Renner, Sina ; Schüler, Helke ; Alawi, Malik...
Genetics in Medicine.  21 (2019)  8 - p. 1832-1841 , 2019
Link: https://doi.org/10.1038/..
 
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4

Genetical, clinical, and functional analysis of a large int..:

Ballin, Nadja ; Hotz, Alrun ; Bourrat, Emmanuelle...
Human Mutation.  40 (2019)  12 - p. 2318-2333 , 2019
Link: https://doi.org/10.1002/..
 
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5

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Devel..:

Platzer, Konrad ; Cogné, Benjamin ; Hague, Jennifer...
Annals of Neurology.  84 (2018)  2 - p. 200-207 , 2018
Link: https://doi.org/10.1002/..
 
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6

FOXG1 syndrome: genotype–phenotype association in 83 patien..:

Mitter, Diana ; Pringsheim, Milka ; Kaulisch, Marc...
Genetics in Medicine.  20 (2018)  1 - p. 98-108 , 2018
Link: https://doi.org/10.1038/..
 
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7

Biallelic COL3A1 mutations result in a clinical spectrum of..:

Horn, Denise ; Siebert, Eberhard ; Seidel, Ulrich...
American Journal of Medical Genetics Part A.  173 (2017)  9 - p. 2534-2538 , 2017
Link: https://doi.org/10.1002/..
 
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8

Next-generation sequencing reveals the mutational landscape..:

Neuhaus, Christine ; Eisenberger, Tobias ; Decker, Christian...
Molecular Genetics & Genomic Medicine.  5 (2017)  5 - p. 531-552 , 2017
Link: https://doi.org/10.1002/..
 
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9

Genotype and phenotype in patients with Noonan syndrome and..:

Kouz, Karim ; Lissewski, Christina ; Spranger, Stephanie...
Genetics in Medicine.  18 (2016)  12 - p. 1226-1234 , 2016
Link: https://doi.org/10.1038/..
 
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10

Late onset dHMN II caused by c.404C>G mutation in HSPB1 gen..:

Oberstadt, Moritz ; Mitter, Diana ; Classen, Joseph.
Journal of the Peripheral Nervous System.  21 (2016)  2 - p. 111-113 , 2016
Link: https://doi.org/10.1111/..
 
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11

Duplication Xp11.22‐p14 in females: Does X‐inactivation hel..:

Evers, Christina ; Mitter, Diana ; Strobl‐Wildemann, Gertrud...
American Journal of Medical Genetics Part A.  167 (2015)  3 - p. 553-562 , 2015
Link: https://doi.org/10.1002/..
 
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12

Novel peroxisome proliferator‐activated receptor gamma muta..:

Miehle, Konstanze ; Porrmann, Joseph ; Mitter, Diana...
Clinical Endocrinology.  84 (2015)  1 - p. 141-148 , 2015
Link: https://doi.org/10.1111/..
 
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13

Frühgeborenes mit auffälligem Phänotyp: Kasuistik:

Schilling, Silke ; Gebauer, Corinna ; Knüpfer, Matthias...
pädiatrie: Kinder- und Jugendmedizin hautnah.  26 (2014)  2 - p. 106-108 , 2014
Link: https://doi.org/10.1007/..
 
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14

Progeroid laminopathy with restrictive dermopathy-like feat..:

Starke, Sven ; Meinke, Peter ; Camozzi, Daria...
Aging.  5 (2013)  6 - p. 445-459 , 2013
Link: https://doi.org/10.18632..
 
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15

Genotype–phenotype correlation in eight new patients with a..:

Mitter, Diana ; Chiaie, Barbara Delle ; Lüdecke, Hermann‐Josef...
American Journal of Medical Genetics Part A.  152A (2010)  5 - p. 1213-1224 , 2010
Link: https://doi.org/10.1002/..
 
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