Dilated aorta in CNOT3-related neurodevelopmental disorder: ‘expanding’ the phenotype

2024-8-1

Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature

2024-7-16

Genotype–phenotype characteristics of 57 patients with Prader–Willi syndrome: a single-center experience from Turkey

2024-6-18

Meier–Gorlin syndrome type 7: a rare cause of primordial dwarfism: two new cases and literature review

2024-6-17

A case of U2AF2-related developmental disorder: long-term follow-up and expansion of the phenotype

2024-6-4

A new case of SUPT16H-associated syndromic neurodevelopmental delay

2024-5-29

Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion

2024-5-29

Interstitial 3p25.3 deletion syndrome: 13 years’-long follow-up of an affected individual

2024-5-21

Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur–Chung syndrome in a single family

2024-5-16

Identification of a novel IQCE variant in a Korean patient with nonsyndromic postaxial polydactyly

2024-5-16

A de novo pathogenic variant in neuronal differentiation factor 2 in a Chinese patient with early infantile epileptic encephalopathy

2024-4-17

A triple molecular diagnosis in a Turkish individual with hypotrichosis, deafness, and diabetes

2024-4-1

Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome

2024-3-22

A novel homozygous deletion in CCDC32 gene causing cardiofacioneurodevelopmental syndrome: the fourth patient reported

2024-3-15

Variants of the GNAI1 gene manifest as Prader–Willi-like syndrome: Case report with literature review

2024-2-28

A case report of Hennekam syndrome with a mutation in the CCBE1 gene

2024-2-28

Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia

2024-2-28

Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris

2024-2-26

The likelihood of detecting abnormal karyotypes in fetuses with a single major anomaly or “soft” marker on ultrasonographic scanning

2024-2-16

A case of 14q terminal deletion syndrome and hemifacial microsomia with review of terminal 14q deletion cases

2024-2-16

A 17-month-old girl with fetal valproate syndrome and ocular coloboma

2024-2-16

Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population

2024-2-16

Dual diagnosis of microcephalic osteosplastic primary dwarfism type II and benign familial infantile seizure type 2: a case report

2024-2-6

Prenatal presentation and diagnosis of a case of fetal varicella syndrome

2024-2-6

A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia

2024-1-5

Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant

2023-12-14

Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families

2023-11-30

Moyamoya disease/cerebral vasculopathy in osteopathia striata with cranial sclerosis: a rare but important complication

2023-11-29

Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience

2023-11-29

Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants

2023-11-15

Translocation t(X;Y) characterized by chromosomal microarray and FISH in a phenotypic male with Microphthalmia and linear skin defects

2023-11-11

To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening

2023-10-13

LPIN2-related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature

2023-10-12

Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis

2023-10-4

A previous clinical diagnosis of Ullrich–Feichtiger syndrome is molecularly defined as Townes–Brocks syndrome

2023-9-6

Recurrence of ARID1B-related Coffin-Siris Syndrome by possible gonadal mosaicism

2023-8-10

Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson

2023-8-3

Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation

2023-8-2

Clinical and molecular study of Egyptian patients with Treacher Collins syndrome

2023-7-4

Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort

2023-7-4

Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature

2023-6-19

Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome

2023-6-16

A familial rearrangement resulting in pure duplication of distal 19p13.3

2023-6-16

Extending the phenotype of Shashi–Pena syndrome: a case report and review of literature

2023-5-12

MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly

2023-5-8

Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus

2023-5-5

Fetal methotrexate syndrome following an unsuccessful medication abortion – a rare syndrome posed to become more common

2023-5-2

DEGS1-related leukodystrophy: a clinical report and review of literature

2023-5-1

Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype

2023-5-1

MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9

2023-5-1