Exploring Kleefstra Syndrome Cohort Phenotype Characteristics: Prevalence Insights from Caregiver-Reported Outcomes

2024-9-17

Novel CTR9 germline pathogenic splice site variant in siblings with Wilms tumor from Tanzania

2024-9-16

Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3

2024-9-16

Economic evaluation of extended panel analysis in cancer patients with historical NHS diagnostic germline genetic testing – A modeling study based on real-world data

2024-9-12

Mutation Spectrum of Tyrosinemia Type I in Iran, A Retrospective Cohort Study

2024-9-10

ITGB4-RELATED PYLORIC ATRESIA WITHOUT EPIDERMOLYSIS IN TWO SIBLINGS.

2024-9-1

A novel germline Pregnan X Receptor (PXR) variant predisposing to Hodgkin lymphoma in two siblings.

2024-9-1

Digital clubbing without hypoxia for lysinuric protein intolerance

2024-8-14

The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion

2024-8-1

Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy

2024-8-1

Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy

2024-7-31

Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review

2024-7-27

Analysis of UGT1A1 genotype-phenotype correlation in Chinese patients with Gilbert and Crigler-Najjar II syndrome

2024-7-26

Demystifying gene(tic) therapies

2024-7-26

Attitudes towards disclosure of familial genetic risk in a Mediterranean island population – A survey of the Maltese population

2024-7-23

Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome

2024-7-21

Cancer in 22q11.2 deletion syndrome: A case report and literature review

2024-7-3

Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets

2024-6-29

Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish family

2024-6-17

The discovery of a ten-generation m.C1494T pedigree in the east of England with probable links to King Richard III

2024-6-17

Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype

2024-6-9

Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study

2024-6-8

Jaberi-Elahi Syndrome: Exploring a Novel GTPBP2 Mutation and a Literature Review

2024-6-7

Addressing Diagnostic Gaps and Priorities of the Global Rare Diseases Community: Recommendations from the IRDiRC Diagnostics Scientific Committee

2024-6-6

Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male

2024-6-1

Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS

2024-6-1

Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey

2024-5-24

Expanding the clinical spectrum of Coffin-Siris syndrome with Anorectal Malformations: case report and review of the literature.

2024-5-10

Atlantoaxial dislocation in the setting of NMLFS

2024-5-8

A novel splicing variant in MICAL-1 gene is associated with epilepsy

2024-5-3

Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7- linkeropathy).

2024-5-1

Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood

2024-4-15

Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND

2024-4-7

First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant

2024-4-4

Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants

2024-4-2

The history of the international rare diseases research consortium (IRDiRC) and its conferences

2024-4-1

How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.

2024-4-1

Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study

2024-4-1

Mother and daughter with Kenny-Caffey Syndrome: the adult phenotype

2024-4-1

DPF2-related Coffin-Siris syndrome type 7 in two generations

2024-4-1

PRKD1-related Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: case report and review of the literature.

2024-4-1

From biology to personalized medicine: recent knowledge in Osteosarcoma

2024-4-1

Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta

2024-3-26

Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China

2024-3-3

A systematic review of the assessment of the clinical utility of genomic sequencing: Implications of the lack of standard definitions and measures of clinical utility

2024-3-1

Penetrance, variable expressivity and monogenic neurodevelopmental disorders

2024-3-1

Two siblings with PEX11B-related peroxisome biogenesis disorder

2024-2-28

Imaging in osteogenesis imperfecta: Where we are and where we are going

2024-2-16

Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa

2024-2-6

Altered peripheral blood leukocyte subpopulations, function, and gene expression in children with Down Syndrome: Implications for respiratory tract infection

2024-2-5