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Janecke, Andreas R
366  results:
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1

Kinesin family member 12‐related hepatopathy: A generally i..:

Vogel, Georg‐Friedrich ; Podpeskar, Alexandra ; Rieder, Dietmar...
Clinical Genetics.  , 2024
Link: https://doi.org/10.1111/..
 
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2

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygou..:

Patterson, Karynne ; Chong, Jessica X. ; Chung, Doug D....
American Journal of Ophthalmology.  258 (2024)  - p. 183-195 , 2024
Link: https://doi.org/10.1016/..
 
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3

SLC5A1 Variants in Turkish Patients with Congenital Glucose..:

Hoşnut, Ferda Ö. ; Janecke, Andreas R. ; Şahin, Gülseren...
Genes.  14 (2023)  7 - p. 1359 , 2023
Link: https://doi.org/10.3390/..
 
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4

Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous S..:

Vodopiutz, Julia ; Steurer, Lisa-Maria ; Haufler, Florentina...
Genes.  14 (2023)  4 - p. 877 , 2023
Link: https://doi.org/10.3390/..
 
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5

Internal Ileal Diversion as Treatment for Progressive Famil..:

Kavallar, Anna M. ; Messner, Franka ; Scheidl, Stefan...
Children.  9 (2022)  12 - p. 1964 , 2022
Link: https://doi.org/10.3390/..
 
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6

Further delineation of SLC9A3‐related congenital sodium dia..:

Bogdanic, Ema ; Müller, Thomas ; Heinz‐Erian, Peter...
Molecular Genetics & Genomic Medicine.  10 (2022)  8 - p. , 2022
Link: https://doi.org/10.1002/..
 
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7

UNC45A deficiency causes microvillus inclusion disease–like..:

Duclaux-Loras, Rémi ; Lebreton, Corinne ; Berthelet, Jérémy...
Journal of Clinical Investigation.  132 (2022)  10 - p. , 2022
Link: https://doi.org/10.1172/..
 
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8

Extremely severe hypochloremic metabolic alkalosis after il..:

Heinz-Erian, Peter ; Janecke, Andreas R ; Müller, Thomas...
Gastroenterology Report.  11 (2022)  - p. , 2022
Link: https://doi.org/10.1093/..
 
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9

Author Correction: Mutations in PYCR1 cause cutis laxa with..:

Reversade, Bruno ; Escande-Beillard, Nathalie ; Dimopoulou, Aikaterini...
Nature Genetics.  54 (2022)  2 - p. 213-213 , 2022
Link: https://doi.org/10.1038/..
 
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10

Comprehensive variant spectrum of theCNGA3gene in patients ..:

Solaki, Maria ; Baumann, Britta ; Reuter, Peggy...
Human Mutation.  43 (2022)  7 - p. 832-858 , 2022
Link: https://doi.org/10.1002/..
 
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11

A Potential Treatment of Congenital Sodium Diarrhea in Pati..:

van Vugt, Anke H.M. ; Bijvelds, Marcel J.C. ; de Jonge, Hugo R....
Clinical and Translational Gastroenterology.  12 (2021)  11 - p. e00427 , 2021
Link: https://doi.org/10.14309..
 
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12

Erratum to: Biallelic variants in HPDL cause pure and compl..:

Wiessner, Manuela ; Maroofian, Reza ; Ni, Meng-Yuan...
Brain.  144 (2021)  8 - p. e70-e70 , 2021
Link: https://doi.org/10.1093/..
 
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13

Characteristic facial features and cortical blindness disti..:

Haberlandt, Edda ; Valovka, Taras ; Janjic, Tanja...
Molecular Genetics & Genomic Medicine.  9 (2021)  3 - p. , 2021
Link: https://doi.org/10.1002/..
 
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14

Biallelic variants in VPS50 cause a neurodevelopmental diso..:

Schneeberger, Pauline E ; Nampoothiri, Sheela ; Holling, Tess...
Brain.  144 (2021)  10 - p. 3036-3049 , 2021
Link: https://doi.org/10.1093/..
 
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15

Long-Term Follow-Up of Tufting Enteropathy Caused by EPCAM ..:

Ozler, Oğuz ; Brunner-Véber, Andrea ; Fatih, Parmis...
JPGN Reports.  2 (2021)  1 - p. e029 , 2021
Link: https://doi.org/10.1097/..
 
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