• 7-week-old infant with a hydrolethalus syndrome: case report, differential diagnosis and literature review
• A fetus with an abnormal chromosome 7 and possible hydrolethalus syndrome
• A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
• A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome
• A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
• Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS?
• Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance
• An Asian girl with a 'milder' form of the Hydrolethalus syndrome
• Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25
• Bilateral pulmonary agenesis: association with the hydrolethalus syndrome and review of the literature from a developmental field perspective
• Centriole structural integrity defects are a crucial feature of Hydrolethalus Syndrome
• Centrioles initiate cilia assembly but are dispensable for maturation and maintenance in <em>C. elegans</em>
• Ciliopathy protein HYLS1 coordinates the biogenesis and signaling of primary cilia by activating the ciliary lipid kinase PIPKIγ
• Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
• Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome
• Exercise Alters FBF1-Regulated Novel-miRNA-1135 Associated with Hydrolethalus Syndrome 1 in Rheumatoid Arthritis: A Preliminary Study
• Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome
• Familial holoprosencephaly, heart defects, and polydactyly
• First-trimester diagnosis of hydrolethalus syndrome
• First-trimester diagnosis of hydrolethalus syndrome in a Chinese family
• First-trimester prenatal diagnosis of Ellis-van Creveld syndrome
• Functional Analysis of Hydrolethalus Syndrome Protein HYLS1 in Ciliogenesis and Spermatogenesis in <em>Drosophila</em>
• Functional Analysis of Hydrolethalus Syndrome Protein HYLS1 in Ciliogenesis and Spermatogenesis in Drosophila
• Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome
• Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study
• Holoprosencephaly, polydactyly, cardiopathy: new syndrome or a new case of hydrolethalus?
• Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes
• Hydrolethalus (Salonen-Herva-Norio) syndrome: further clinicopathological delineation
• Hydrolethalus syndrome
• Hydrolethalus syndrome
• Hydrolethalus syndrome
• Hydrolethalus syndrome in a non-Finnish family: confirmation of the entity and early prenatal diagnosis
• Hydrolethalus syndrome in consecutive African siblings
• Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
• Hydrolethalus syndrome, in contrast to Smith-Lemli-Opitz syndrome, is not due to a defect in post-squalene cholesterol biosynthesis: a case report
• Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis
• Hydrolethalus syndrome: report of an apparent mild case, literature review, and differential diagnosis
• Hydrolethalus: a midline malformation syndrome with optic nerve coloboma and hypoplasia
• In the Shadows of Rarity: A Case Report of Syndromic Cleft Lip and Palate!
• KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
• Lethal evolution of a newborn with consistent features of hydrolethalus syndrome--Romanian patient
• Meckel syndrome: genetics, perinatal findings, and differential diagnosis
• Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes
• Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
• Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome
• Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature
• Numerical syndromology: a mathematical approach to the nosology of complex phenotypes
• On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome
• Overlap between Majewski and hydrolethalus syndromes: a report of two cases
• Polydactyly, holoprosencephaly, cleft lip and cleft palate are not always what they seem: Case report
• Prenatal detection of hydrolethalus syndrome
• Prenatal diagnosis of hydrolethalus (Salonen-Herva-Norio syndrome) in a woman with unknown risk: presentation of a case with long survival
• Prenatal ultrasound findings in hydrolethalus: continuing difficulties in diagnosis
• Pseudotrisomy 13: clinical findings and genetic implications
• Roentgenologic findings of the hydrolethalus syndrome
• Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: hydrolethalus or acrocallosal syndrome?
• Sonographic detection of hydrolethalus syndrome
• Sonographic detection of hydrolethalus syndrome
• Structural insights into human Kif7, a kinesin involved in Hedgehog signalling
• Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others
• Syndromes, disorders and maternal risk factors associated with neural tube defects (V)
• The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome
• The hydrolethalus syndrome
• The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation
• The hydrolethalus syndrome protein HYLS-1 regulates formation of the ciliary gate
• The hydrolethalus syndrome--a new hereditary malformation syndrome in Finland
• The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients
• The value of perinatal post-mortem radiography. Experience of 514 cases
• Twin fetuses with abnormalities that overlap with three midline malformation complexes
• Two consecutive hydrolethalus syndrome-affected pregnancies in a nonconsanguinous black couple: discussion of problems in prenatal differential diagnosis of midline malformation syndromes
• Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level
• VACTERL with hydrocephalus: further delineation of the syndrome(s)
• Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome