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1.
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.
Clin Genet
; 2024 Mar 29.
Article
in English
| MEDLINE | ID: mdl-38553872
2.
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Am J Hum Genet
; 104(4): 758-766, 2019 04 04.
Article
in English
| MEDLINE | ID: mdl-30929739
3.
SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase.
Hum Mol Genet
; 28(5): 828-841, 2019 03 01.
Article
in English
| MEDLINE | ID: mdl-30445423
4.
The relation of etiology based on the 2017 ILAE classification to the effectiveness of the ketogenic diet in drug-resistant epilepsy in childhood.
Epilepsia
; 62(11): 2814-2825, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34453316
5.
Rare skeletal disorders: a multidisciplinary postnatal approach to diagnosis and management.
Wien Med Wochenschr
; 171(5-6): 94-101, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33689085
6.
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Hum Mutat
; 41(3): 655-667, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31705726
7.
Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria.
Clin Genet
; 98(3): 282-287, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32557621
8.
Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.
J Pediatr Gastroenterol Nutr
; 68(1): e1-e6, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30589726
9.
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.
Hum Mutat
; 38(1): 34-38, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27599773
10.
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.
Hum Mol Genet
; 24(23): 6614-23, 2015 Dec 01.
Article
in English
| MEDLINE | ID: mdl-26358773
11.
Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.
Gut
; 65(8): 1306-13, 2016 08.
Article
in English
| MEDLINE | ID: mdl-25994218
12.
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Am J Hum Genet
; 93(5): 932-44, 2013 Nov 07.
Article
in English
| MEDLINE | ID: mdl-24183451
13.
Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.
Hum Mutat
; 36(1): 26-9, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25196272
14.
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Hum Mutat
; 36(11): 1021-8, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26123727
15.
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.
Hum Mol Genet
; 22(18): 3761-72, 2013 Sep 15.
Article
in English
| MEDLINE | ID: mdl-23704329
16.
MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.
Eur J Pediatr
; 174(1): 113-8, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25446406
17.
An unusual presentation of incontinentia pigmenti.
J Dtsch Dermatol Ges
; 18(2): 133-135, 2020 Feb.
Article
in English
| MEDLINE | ID: mdl-31876076
18.
Ein ungewöhnlicher Verlauf von Incontinentia pigmenti.
J Dtsch Dermatol Ges
; 18(2): 133-135, 2020 Feb.
Article
in German
| MEDLINE | ID: mdl-32026646
19.
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
NPJ Genom Med
; 9(1): 18, 2024 Mar 01.
Article
in English
| MEDLINE | ID: mdl-38429302
20.
Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.
J Pediatr
; 162(3): 612-7, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23069192