Pages that link to "Q24669597"

The following pages link to Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome (Q24669597):

Displaying 45 items.

• multiple pterygium syndrome (Q16889762) (← links)
• Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders (Q24310729) (← links)
• Arthrogryposis: a review and update (Q24644127) (← links)
• Crystal structures of Lymnaea stagnalis AChBP in complex with neonicotinoid insecticides imidacloprid and clothianidin (Q27650068) (← links)
• Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome) (Q28275139) (← links)
• Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. (Q30401429) (← links)
• Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. (Q30426893) (← links)
• Mutations in ECEL1 cause distal arthrogryposis type 5D (Q30452427) (← links)
• Essential roles of the acetylcholine receptor gamma-subunit in neuromuscular synaptic patterning (Q30486262) (← links)
• Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study (Q33351537) (← links)
• Cleft palate is caused by CNS dysfunction in Gad1 and Viaat knockout mice (Q33545249) (← links)
• Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1 (Q33727470) (← links)
• Congenital myasthenic syndromes in 2012. (Q34407051) (← links)
• Systematic analysis of palatal transcriptome to identify cleft palate genes within TGFβ3-knockout mice alleles: RNA-Seq analysis of TGFβ3 Mice (Q34591577) (← links)
• Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome (Q34739919) (← links)
• Escobar syndrome in three male patients of same family (Q35130967) (← links)
• Current status of the congenital myasthenic syndromes (Q35718489) (← links)
• Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum (Q35942128) (← links)
• Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth (Q36292736) (← links)
• Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. (Q36477658) (← links)
• Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin (Q36515048) (← links)
• Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies (Q36582346) (← links)
• Insect nicotinic acetylcholine receptor gene families: from genetic model organism to vector, pest and beneficial species. (Q36704822) (← links)
• Structural correlates of affinity in fetal versus adult endplate nicotinic receptors (Q36835679) (← links)
• Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission (Q36904999) (← links)
• Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome (Q36950080) (← links)
• Asymmetric transmitter binding sites of fetal muscle acetylcholine receptors shape their synaptic response (Q37103819) (← links)
• Genetics of cleft lip and cleft palate. (Q37587513) (← links)
• Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). (Q37741152) (← links)
• The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. (Q38067072) (← links)
• Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis (Q38072356) (← links)
• Nicotinic acetylcholine receptors in human genetic disease (Q38189979) (← links)
• Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7. (Q40029298) (← links)
• Dok-7/MuSK signaling and a congenital myasthenic syndrome. (Q40190415) (← links)
• Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders (Q44357864) (← links)
• Airway management with remifentanil sedation in multiple pterygium syndrome of Escobar (Q46459461) (← links)
• Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. (Q48233818) (← links)
• MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). (Q50605732) (← links)
• Neuromotor synapses in Escobar syndrome. (Q52643448) (← links)
• Clinicoradiological correlation of scoliosis in children with Jarcho-Levin and Escobar syndromes: associated "flat bone or wing-like" imaging findings. (Q53067320) (← links)
• Ethical and Counseling Challenges in Prenatal Exome Sequencing (Q56517284) (← links)
• Pena-Shokeir syndrome: current management strategies and palliative care. (Q64893554) (← links)
• Congenital myasthenic syndromes (Q81651278) (← links)
• Is webbing (pterygia) a constant feature in patients with Escobar syndrome? (Q86801813) (← links)
• Congenital Myasthenic Syndromes in 2018 (Q89072864) (← links)