| Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children |
5 |
| Expansion of phenotype of DDX3X syndrome: six new cases |
5 |
| Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature |
4 |
| Cantu syndrome, the changing phenotype: a report of the two oldest Dutch patients |
3 |
| Novel mutation in MASP1 gene in a new family with 3MC syndrome |
3 |
| A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature |
3 |
| SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss |
3 |
| A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia |
2 |
| Phenotypic delineation of a 12q21 deletion syndrome |
2 |
| A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia |
2 |
| Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review |
2 |
| Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis |
2 |
| Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect |
2 |
| Further delineation of DDX3X syndrome |
2 |
| Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant |
2 |
| Mutation of PACS1: the milder end of the spectrum |
2 |
| De novo Xq21.31-q21.32 duplication in intellectual disability: a new report |
1 |
| Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene |
1 |
| LAMM syndrome: two new patients with a novel mutation in FGF3 gene and additional clinical findings |
1 |
| A rare mutation of retinoic acid receptor-beta associated with lethal neonatal Matthew-Wood syndrome |
1 |
| Apert syndrome with congenital diaphragmatic hernia: another case report and review of the literature |
1 |
| A rare symptom of a very rare disease: a case report of a oculodentodigital dysplasia with lymphedema |
1 |
| Robinow syndrome: a diagnosis at the fingertips |
1 |
| The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported |
1 |
| The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly |
1 |
| UBE2A-related X-linked intellectual disability |
1 |
| Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome |
1 |
| Myhre syndrome with novel findings: bilateral congenital cortical cataract, bilateral papilledema, accessory nipple, and adenoid hypertrophy |
1 |
| Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy |
1 |
| Arytenoid neuromas are a recognized feature of SOS1 mutations causing pure mucosal neuroma syndrome |
1 |
| First case of nonalcoholic steatohepatitis in a child with del(1p36) and dup (Xp22): review of the literature |
1 |
| Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene |
1 |
| Mutation in the ADNP gene associated with Noonan syndrome features |
1 |
| Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element |
1 |
| Fragile X syndrome with mosaic size mutation in a Bantu patient from Central Africa |
1 |
| A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata |
1 |
| GATAD2B-related intellectual disability due to parental mosaicism and review of literature |
1 |
| Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype |
1 |
| Phenotypic description of two adult brothers presenting with mild form of Smith-Lemli-Opitz syndrome |
1 |
| TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome |
1 |
| Expanding the phenotype of Filippi Syndrome: a patient with early onset puberty |
0 |
| Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2 |
0 |
| SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation |
0 |
| Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype |
0 |
| Dual diagnosis causing severe phenotype in a patient with Angelman syndrome |
0 |
| Unusual association of Mayer-Rokitansky-Kuster-Hauser and Sotos syndromes: a case report |
0 |
| Myhre syndrome: a report of six Chinese patients and literature review |
0 |
| Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplication |
0 |
| Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity |
0 |
| Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders |
0 |
