Titel	Veröffentlichungsdatum	Sprache	Zitate
Regulation of N6‐methyladenosine modification in erythropoiesis and thalassemia	2024/03/15	English
Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform	2024/03/11	English
Identification of genetic causes in children with unexplained epilepsy based on trio‐whole exome sequencing	2024/03/11	English
Clinical feature, GALC variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years	2024/03/22	English
Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants	2024/02/15	English
Missense mutation of c.635 T > C in CAPN3 impairs muscle injury repair in a Limb‐Girdel Muscular Dystropy Model	2023/03/31	English
Issue Information	2023/03/01	English
Genotype–phenotype correlation in Prader‐Willi syndrome: A large‐sample analysis in China	2024/01/23	English
Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia	2024/01/15	English
Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism	2024/01/15	English
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures	2024/01/26	English
Nonsense variant in a consanguineous family expands the phenotype of KPTN gene‐related syndrome to include hearing impairment	2023/06/13	English
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early‐onset cataracts and congenital glaucoma	2023/06/15	English
Biallelic loss of function variant in ZNF808 is associated with non‐syndromic neonatal diabetes	2023/06/12	English
De‐novo “germline second hit” loss‐of‐heterozygosity RBP3 deletion mutation causing recessive high myopia	2023/06/12	English
Issue Information	2023/01/04	English
Issue Information	2023/02/01	English
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination	2023/01/19	English
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants	2023/01/07	English
Possible association of trichorhinophalangeal syndrome I and intracranial subependymoma	2023/01/29	English
The family reported to have X‐linked Dyggve–Melchior–Clausen syndrome instead has X‐linked SEDT caused by a novel TRAPPC2 frameshift variant	2023/01/26	English
The budding utility of yeast artificial chromosomes in modeling human disease	2001/01/01	English
HotSpots	2001/06/01	English
7th International Meeting on Psychosocial Aspects of Genetic Testing for Hereditary Breast and/or Ovarian Cancer (HBOC) and Hereditary Non‐polyposis Colorectal Cancer (HNPCC)	2001/06/01	English
HotSpots	2001/08/01
BAC to basics in understanding human Down syndrome	2001/01/01	English
Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias	2024/02/20	English
Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications	2024/02/19	English
Genetic and phenotypic diversities of nevus spilus phenotypes: Case series and a proposed diagnostic algorithm	2023/07/27	English
Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome	2023/08/24	English