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Hinderhofer, Katrin
120  results:
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1

Compilation of Genotype and Phenotype Data in GCDH-LOVD for..:

Tibelius, Alexandra ; Evers, Christina ; Oeser, Sabrina...
Genes.  14 (2023)  12 - p. 2218 , 2023
Link: https://doi.org/10.3390/..
 
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2

Is iron deficiency caused by BMPR2 mutations or dysfunction..:

Theobald, Vivienne ; Grünig, Ekkehard ; Benjamin, Nicola...
Pulmonary Circulation.  13 (2023)  2 - p. , 2023
Link: https://doi.org/10.1002/..
 
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3

Gene panel diagnostics reveals new pathogenic variants in p..:

Eichstaedt, Christina A. ; Saßmannshausen, Zoe ; Shaukat, Memoona...
Respiratory Research.  23 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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4

Activation of AKT/mammalian target of rapamycin signaling i..:

Rehnitz, Julia ; Messmer, Birgitta ; Bender, Ulrike...
Reproductive Biology and Endocrinology.  20 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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5

Reduction of BMPR2 mRNA Expression in Peripheral Blood of P..:

Theobald, Vivienne ; Benjamin, Nicola ; Seyfarth, Hans-Jürgen...
Genes.  13 (2022)  5 - p. 759 , 2022
Link: https://doi.org/10.3390/..
 
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6

Expression of FMRpolyG in Peripheral Blood Mononuclear Cell..:

Nguyen, Xuan Phuoc ; Vilkaite, Adriana ; Messmer, Birgitta...
Genes.  13 (2022)  3 - p. 451 , 2022
Link: https://doi.org/10.3390/..
 
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7

X-linked variations inSHROOM4are implicated in congenital a..:

Kolvenbach, Caroline M ; Felger, Tim ; Schierbaum, Luca...
Journal of Medical Genetics.  60 (2022)  6 - p. 587-596 , 2022
Link: https://doi.org/10.1136/..
 
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8

Germ cell mosaicism for AUTS2 exon 6 deletion:

Gieldon, Laura ; Jauch, Anna ; Obeid, Katharina...
American Journal of Medical Genetics Part A.  185 (2021)  4 - p. 1261-1265 , 2021
Link: https://doi.org/10.1002/..
 
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9

Leitlinien zur molekulargenetischen Diagnostik: Fragiles-X-..:

Gläser, Dieter ; Deutsche Gesellschaft für Humangenetik e.V. ; Berufsverband Deutscher Humangenetiker e.V..
Medizinische Genetik.  33 (2021)  1 - p. 65-73 , 2021
Link: https://doi.org/10.1515/..
 
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10

Evidence That Non-Syndromic Familial Tall Stature Has an Ol..:

Weiss, Birgit ; Eberle, Birgit ; Roeth, Ralph...
Frontiers in Endocrinology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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11

Quantitative retrospective natural history modeling for orp..:

Garbade, Sven F. ; Zielonka, Matthias ; Komatsuzaki, Shoko...
Journal of Inherited Metabolic Disease.  44 (2020)  1 - p. 99-109 , 2020
Link: https://doi.org/10.1002/..
 
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12

Real-world outcomes in non-endemic hereditary transthyretin..:

Ungerer, Matthias N. ; Hund, Ernst ; Purrucker, Jan C....
Amyloid.  28 (2020)  2 - p. 91-99 , 2020
Link: https://doi.org/10.1080/..
 
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13

BMPR2 Promoter Variants Effect Gene Expression in Pulmonary..:

Song, Jie ; Hinderhofer, Katrin ; Kaufmann, Lilian T....
Genes.  11 (2020)  10 - p. 1168 , 2020
Link: https://doi.org/10.3390/..
 
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14

A boy with Silver–Russell syndrome and Sotos syndrome:

Schwaibold, Eva M. C. ; Beygo, Jasmin ; Obeid, Katharina...
American Journal of Medical Genetics Part A.  185 (2020)  2 - p. 549-554 , 2020
Link: https://doi.org/10.1002/..
 
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15

Myeloproliferative Diseases as Possible Risk Factor for Dev..:

Eichstaedt, Christina A. ; Verweyen, Jeremias ; Halank, Michael...
International Journal of Molecular Sciences.  21 (2020)  9 - p. 3339 , 2020
Link: https://doi.org/10.3390/..
 
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