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Gillessen-Kaesbach, Gabriele
187  Ergebnisse:
Personensuche X
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1

Biallelic variants in ADAMTS15 cause a novel form of distal..:

Boschann, Felix ; Cogulu, Ozgur ; Pehlivan, Davut...
Genetics in Medicine.  25 (2023)  5 - p. 100799 , 2023
Link: https://doi.org/10.1016/..
 
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2

Biallelic variants in ADAMTS15 cause a novel form of distal..:

Boschann, Felix ; Cogulu, Ozgur ; Pehlivan, Davut...
Genetics in Medicine.  24 (2022)  10 - p. 2187-2193 , 2022
Link: https://doi.org/10.1016/..
 
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3

Protocol of the Luebeck longitudinal investigation of SARS-..:

Balck, Alexander ; Föh, Bandik ; Borsche, Max...
BMC Public Health.  22 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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4

Maternal transmission of a mild Coffin–Siris syndrome pheno..:

Hanker, Britta ; Gillessen-Kaesbach, Gabriele ; Hüning, Irina..
European Journal of Human Genetics.  30 (2021)  1 - p. 126-132 , 2021
Link: https://doi.org/10.1038/..
 
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5

Recurrent heterozygous PAX6 missense variants cause severe ..:

Williamson, Kathleen A. ; Hall, H. Nikki ; Owen, Liusaidh J....
Genetics in Medicine.  22 (2020)  3 - p. 598-609 , 2020
Link: https://doi.org/10.1038/..
 
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6

The adult phenotype of Schaaf-Yang syndrome:

Marbach, Felix ; Elgizouli, Magdeldin ; Rech, Megan...
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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7

Identification of the recently described plasminogen gene m..:

Recke, Andreas ; Massalme, Elisabeth G. ; Jappe, Uta...
Clinical and Translational Allergy.  9 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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8

The origin of imprinting defects in Temple syndrome and com..:

Beygo, Jasmin ; Mertel, Claudia ; Kaya, Sabine...
Epigenetics.  13 (2018)  8 - p. 822-828 , 2018
Link: https://doi.org/10.1080/..
 
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9

A KAT6A variant in a family with autosomal dominantly inher..:

Trinh, Joanne ; Hüning, Irina ; Yüksel, Zafer...
Journal of Human Genetics.  63 (2018)  9 - p. 997-1001 , 2018
Link: https://doi.org/10.1038/..
 
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10

Novel mosaic variants in two patients with Cornelia de Lang..:

Pozojevic, Jelena ; Parenti, Ilaria ; Graul-Neumann, Luitgard...
European Journal of Medical Genetics.  61 (2018)  11 - p. 680-684 , 2018
Link: https://doi.org/10.1016/..
 
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11

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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12

New insights into the imprinted MEG8-DMR in 14q32 and clini..:

Beygo, Jasmin ; Küchler, Alma ; Gillessen-Kaesbach, Gabriele...
European Journal of Human Genetics.  25 (2017)  8 - p. 935-945 , 2017
Link: https://doi.org/10.1038/..
 
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13

A novel de novo mutation in CSNK2A1: reinforcing the link t..:

Trinh, Joanne ; Hüning, Irina ; Budler, Nadja...
Journal of Human Genetics.  62 (2017)  11 - p. 1005-1006 , 2017
Link: https://doi.org/10.1038/..
 
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14

Habituelle Aborte; Habitual abortions: Diagnosis and treatm..:

Nawroth, Frank ; Bohlmann, Michael ; Gillessen-Kaesbach, Gabriele...
Der Gynäkologe.  50 (2017)  7 - p. 533-545 , 2017
Link: https://doi.org/10.1007/..
 
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15

Alternating Hemiplegia of Childhood as a New Presentation o..:

Westenberger, Ana ; Max, Christoph ; Brüggemann, Norbert...
The Journal of Pediatrics.  181 (2017)  - p. 306-308.e1 , 2017
Link: https://doi.org/10.1016/..
 
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