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1.
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Am J Hum Genet
; 109(9): 1713-1723, 2022 09 01.
Article
in English
| MEDLINE | ID: mdl-35948005
2.
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.
Hum Mol Genet
; 31(14): 2386-2395, 2022 07 21.
Article
in English
| MEDLINE | ID: mdl-35179199
3.
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
Am J Hum Genet
; 106(1): 121-128, 2020 01 02.
Article
in English
| MEDLINE | ID: mdl-31883643
4.
Precision medicine in rare diseases: What is next?
J Intern Med
; 294(4): 397-412, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37211972
5.
[Practical use of electronic patient records: findings from two care projects in centers for rare diseases]. / Praxiseinsatz Elektronischer Patientenakten: Erkenntnisse aus 2 Versorgungsprojekten in Zentren für Seltene Erkrankungen.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
; 65(11): 1143-1150, 2022 Nov.
Article
in German
| MEDLINE | ID: mdl-36278976
6.
A retrospective analysis of growth hormone therapy in children with Schaaf-Yang syndrome.
Clin Genet
; 100(3): 298-307, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34013972
7.
Kidney re-transplantation in a child across the barrier of persisting angiotensin II type I receptor antibodies.
Pediatr Nephrol
; 36(3): 725-729, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33355703
8.
Relation of health-related quality of life to near final height and body composition in adolescents with chronic endocrinopathies during transition period.
Clin Endocrinol (Oxf)
; 93(6): 696-704, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32682344
9.
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency.
Genet Med
; 20(7): 728-736, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29261175
10.
Analysis of the functional muscle-bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography.
J Inherit Metab Dis
; 40(2): 219-226, 2017 03.
Article
in English
| MEDLINE | ID: mdl-27878409
11.
Inhibition of IGF-I-related intracellular signaling pathways by proinflammatory cytokines in growth plate chondrocytes.
Pediatr Res
; 76(3): 245-51, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24941214
12.
Resource utilization and costs of transitioning from pediatric to adult care for patients with chronic autoinflammatory and autoimmune disorders.
Pediatr Rheumatol Online J
; 22(1): 28, 2024 Feb 23.
Article
in English
| MEDLINE | ID: mdl-38395977
13.
Longitudinal assessment of bone health index as a measure of bone health in short-statured children before and during treatment with recombinant growth hormone.
J Pediatr Endocrinol Metab
; 36(9): 824-831, 2023 Sep 26.
Article
in English
| MEDLINE | ID: mdl-37531076
14.
Arginine-stimulated copeptin based diagnosis of central diabetes insipidus in children and adolescents.
Horm Res Paediatr
; 2023 Aug 22.
Article
in English
| MEDLINE | ID: mdl-37607514
15.
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project).
Endocrine
; 2023 Nov 08.
Article
in English
| MEDLINE | ID: mdl-37940764
16.
Transition for adolescents with a rare disease: results of a nationwide German project.
Orphanet J Rare Dis
; 18(1): 93, 2023 04 25.
Article
in English
| MEDLINE | ID: mdl-37098531
17.
Topical glucocorticoid application causing iatrogenic Cushing's syndrome followed by secondary adrenal insufficiency in infants: two case reports.
J Med Case Rep
; 16(1): 455, 2022 Dec 08.
Article
in English
| MEDLINE | ID: mdl-36476353
18.
Near-Adult Heights and Adult Height Predictions Using Automated and Conventional Greulich-Pyle Bone Age Determinations in Children with Chronic Endocrine Diseases.
Indian J Pediatr
; 89(7): 692-698, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35103904
19.
Sex chromosome DSD individuals with mosaic 45,X0 and aberrant Y chromosomes in 46,XY cells: distinct gender phenotypes and germ cell tumour risks§.
Syst Biol Reprod Med
; 68(4): 247-257, 2022 Aug.
Article
in English
| MEDLINE | ID: mdl-35481403
20.
Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism.
Genes (Basel)
; 12(12)2021 11 24.
Article
in English
| MEDLINE | ID: mdl-34946811