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PubPharm (63)
1
Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations
enthalten in:
European journal of endocrinology
| 2023
von
Ertl, D.
|
de Nanclares, G.
|
Jüppner, H.
| +12
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2
Imprinting disorders
enthalten in:
Nature reviews. Disease primers
| 2023
von
Eggermann, T.
|
Monk, D.
|
de Nanclares, G.
| +11
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3
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
enthalten in:
Clinical epigenetics
| 2022
von
Mackay, D.
|
Bliek, J.
|
Kagami, M.
| +26
Wird geladen...
4
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
enthalten in:
Clinical epigenetics
| 2022
von
Mackay, D.
|
Bliek, J.
|
Kagami, M.
| +26
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5
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
enthalten in:
Clinical epigenetics
| 2022
von
Mackay, D.
|
Bliek, J.
|
Kagami, M.
| +26
Wird geladen...
6
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
enthalten in:
Clinical epigenetics
| 2022
von
Mackay, D.
|
Bliek, J.
|
Kagami, M.
| +26
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7
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
enthalten in:
Clinical epigenetics
| 2022
von
Pignata, L.
|
Cecere, F.
|
Verma, A.
| +21
Wird geladen...
8
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
enthalten in:
Clinical epigenetics
| 2022
von
Pignata, L.
|
Cecere, F.
|
Verma, A.
| +21
Wird geladen...
9
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
enthalten in:
Clinical epigenetics
| 2022
von
Pignata, L.
|
Cecere, F.
|
Verma, A.
| +21
Wird geladen...
10
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
enthalten in:
Clinical epigenetics
| 2022
von
Pignata, L.
|
Cecere, F.
|
Verma, A.
| +21
Wird geladen...
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Clinical epigenetics
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The journal of pediatric endocrinology and meta...
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3
Biomolecular concepts
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European journal of human genetics : EJHG
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American journal of medical genetics. Part A
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Research Support, Non-U.S. Gov't
9
Case Reports
8
Chromogranins
8
EC 3.6.1.-
8
EC 3.6.5.1
8
GNAS protein, human
8
GTP-Binding Protein alpha Subunits, Gs
8
Imprinting disorders
7
DNA methylation
5
Pseudohypoparathyroidism
4
Beckwith–Wiedemann syndrome
4
Beckwith–Wiedemann syndrome spectrum
4
Differentially methylated regions
4
Epimutations
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Gain of methylation
4
Genetic testing
4
Genomic imprinting
4
Growth disturbances
4
Infertility
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