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UnknownA New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot.
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S-EPMC9149553 | biostudies-literature
UnknownNovel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family.
Not available
S-EPMC3977318 | biostudies-literature
UnknownMutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.
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S-EPMC1180616 | biostudies-literature
UnknownImatinib response of gastrointestinal stromal tumor patients with germline mutation on KIT exon 13: A family report.
Not available
S-EPMC5658632 | biostudies-literature
UnknownAarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients.
Not available
S-EPMC12319145 | biostudies-literature
UnknownBBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
Not available
S-EPMC384990 | biostudies-literature
UnknownNance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families.
Not available
S-EPMC10204325 | biostudies-literature
UnknownRAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.
Not available
S-EPMC10165362 | biostudies-literature
UnknownIdentification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.
Not available
S-EPMC4144354 | biostudies-literature
Unknown"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".
Not available
S-EPMC5644177 | biostudies-literature
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