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Witsch-Baumgartner, Martina
46  Ergebnisse:
Personensuche X
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1

A polymorphic AT-repeat causes frequent allele dropout for ..:

Høyer, Helle ; Hilmarsen, Hilde T ; Sunder-Plassmann, Raute...
Journal of Medical Genetics.  59 (2022)  10 - p. 1024-1026 , 2022
Link: https://doi.org/10.1136/..
 
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2

Identifying adult hypophosphatasia in the rheumatology unit:

Feurstein, Julia ; Behanova, Martina ; Haschka, Judith...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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3

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopm..:

Nagy, Dóra ; Verheyen, Sarah ; Wigby, Kristen M....
Genes.  13 (2022)  1 - p. 154 , 2022
Link: https://doi.org/10.3390/..
 
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4

Reply to Lao Q and Merke DP:

Baumgartner-Parzer, Sabina ; Witsch-Baumgartner, Martina ; Hoeppner, Wolfgang
European Journal of Human Genetics.  29 (2021)  7 - p. 1045-1046 , 2021
Link: https://doi.org/10.1038/..
 
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5

Correction to: Expanding the phenotype of hypomaturation am..:

Lepperdinger, Ulrike ; Maurer, Elisabeth ; Witsch-Baumgartner, Martina...
Clinical Oral Investigations.  24 (2020)  10 - p. 3527-3528 , 2020
Link: https://doi.org/10.1007/..
 
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6

EMQN best practice guidelines for molecular genetic testing..:

Baumgartner-Parzer, Sabina ; Witsch-Baumgartner, Martina ; Hoeppner, Wolfgang
European Journal of Human Genetics.  28 (2020)  10 - p. 1341-1367 , 2020
Link: https://doi.org/10.1038/..
 
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7

Expanding the phenotype of hypomaturation amelogenesis impe..:

Lepperdinger, Ulrike ; Maurer, Elisabeth ; Witsch-Baumgartner, Martina...
Clinical Oral Investigations.  24 (2020)  10 - p. 3519-3525 , 2020
Link: https://doi.org/10.1007/..
 
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8

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos s..:

Giunta, Cecilia ; Baumann, Matthias ; Fauth, Christine...
Genetics in Medicine.  20 (2018)  1 - p. 42-54 , 2018
Link: https://doi.org/10.1038/..
 
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9

Marathoning with myotonic dystrophy type 2 (proximal myoton..:

Finsterer, Josef ; Safoschnik, Georg ; Witsch-Baumgartner, Martina
SAGE Open Medical Case Reports.  5 (2017)  - p. 2050313X1770302 , 2017
Link: https://doi.org/10.1177/..
 
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10

Genotype-based databases for variants causing rare diseases:

Lanthaler, Barbara ; Wieser, Stefanie ; Deutschmann, Andrea...
Gene.  550 (2014)  1 - p. 136-140 , 2014
Link: https://doi.org/10.1016/..
 
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11

Don't miss patients with atypical FMR1 mutations: dysmorphi..:

Haberlandt, Edda ; Zotter, Sibylle ; Witsch-Baumgartner, Martina..
European Journal of Pediatrics.  173 (2014)  9 - p. 1257-1261 , 2014
Link: https://doi.org/10.1007/..
 
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12

Single nucleotide polymorphism array analysis in men with i..:

Frühmesser, Anne ; Vogt, Peter H. ; Zimmer, Jutta...
Fertility and Sterility.  100 (2013)  1 - p. 81-87 , 2013
Link: https://doi.org/10.1016/..
 
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13

Human variome project country nodes: Documenting genetic in..:

Patrinos, George P. ; Smith, Timothy D. ; Howard, Heather...
Human Mutation.  33 (2012)  11 - p. 1513-1519 , 2012
Link: https://doi.org/10.1002/..
 
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14

Low incidence of mutations in EGFR kinase domain in Caucasi..:

Loeffler-Ragg, Judith ; Witsch-Baumgartner, Martina ; Tzankov, Alexandar...
European Journal of Cancer.  42 (2006)  1 - p. 109-111 , 2006
Link: https://doi.org/10.1016/..
 
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15

Gefitinib-responsive EGFR-positive colorectal cancers have ..:

Loeffler-Ragg, Judith ; Skvortsov, Sergej ; Sarg, Bettina...
European Journal of Cancer.  41 (2005)  15 - p. 2338-2346 , 2005
Link: https://doi.org/10.1016/..
 
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