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actin - extracellular - matrix linker protein UNC-112causesKindler syndrome
Loss of kinddlin-1 , a human homolog of C. elegans actin - extracellular matrix protein UNC-112causesKindler syndrome
a de novo missense mutationcausingLiddle syndrome
the gain of these function mutations in the ENaC channelcausesLiddle syndrome
the epithelial sodium channelcausingLiddle syndrome
2003 ) Loss of kindlin-1 , a human homolog of the Caenorhabditis elegans actin - extracellular matrix linker protein UNC-112causesKindler syndrome
activating mutations in the last exon of the SCNN1B gene(passive) can be caused byLiddle syndrome
activating mutations in the last exon of the SCNN1 G gene(passive) can be caused byLiddle syndrome
by mutations in the SCNN1B or SCNN1 G gene(passive) is caused byLiddle syndrome
the ENaC mutationcausingLiddle syndrome
mutationscausingLiddle syndrome
A missense mutation in the extracellular domain of ENaCcausesLiddle Syndrome
a disregulated mutation of Na+ channel in the 16p12-p13 gene(passive) is caused byLiddle syndrome
mutations in either the SCNN1B or SCNN1 G genes(passive) is caused byLiddle syndrome
mutations in either the SCNN1B or SCNN1(passive) is caused byLiddle syndrome
Mutation of either SCNN1B or SCNN1 GcausesLiddle syndrome
FERMT1 mutationcausingKindler syndrome
pathogenic variants in the neuronal sodium channel - encoding gene SCN1A(passive) caused byDravet syndrome
Missense mutation of the sodium channel gene SCN2AcausesDravet syndrome
mutations in the SCN1A gene(passive) caused byDravet syndrome
mutation in the extracellular domain of alphaENaCcausesLiddle syndrome
mostly ... mutations in the SCN1A gene(passive) is caused ... byDravet syndrome
changes or mutations in the JAG1 and NOTCH2 genes(passive) is caused byAlagille syndrome
mutations or defects in the JAG1 and NOTCH2 genes(passive) is caused byAlagille syndrome
mutations in the SCN1A gene in approximately 80 % of patients diagnosed with the condition(passive) is caused byDravet syndrome
de novo alterations in the SCN1A gene in more than 80 % of patients(passive) is caused byDravet Syndrome
mutations human Jagged1 , which encodes a ligand for Notch 1(passive) is caused byAlagille syndrome
inherited SCN1A mutationscausingDravet syndrome
mutations in human Jagged1 , which encodes a ligand for Notch1(passive) is caused byAlagille syndrome
An example of pathogenic mutation caused by an Alu element ... the FERMT1 genecausesKindler syndrome
changes , or mutations(passive) is caused byAlagille syndrome
defects in the SCN1A genes required for the proper function of brain cells(passive) is caused byDravet Syndrome
The Jag1 mutations associated withleadAlagille syndrome
mutations in JAGGED1 or NOTCH2(passive) is caused byAlagille syndrome
mutations in JAG1 ( seen in 94 % ) and NOTCH2 ( seen in 1 % ) genes(passive) is caused byAlagille syndrome
the genecausesAlagille syndrome
recessive mutations in the KIND1 gene encoding for a protein implicated in linking the basal keratinocyte actin cytoskeleton to the extracellular matrix(passive) is caused byKindler syndrome
hereditary or spontaneous mutations in JAG1 or NOTCH2 on chromosome 20(passive) is caused byAlagille syndrome
a novel SCN1A deletion : a case report(passive) caused byDravet syndrome
by NOTCH2 mutation(passive) caused byAlagille syndrome
the medication given to prevent miscarriage or to prevent pregnancycan causethe medication given to prevent miscarriage or to prevent pregnancy
by over textingcausedby over texting
seizures and severe developmental delayscausesseizures and severe developmental delays
her severe seizures(passive) caused byher severe seizures
intellectual disabilitiescausesintellectual disabilities
from a chronic problemresultingfrom a chronic problem
the multiple daily seizures(passive) caused bythe multiple daily seizures
from somatic dysfunctionresultingfrom somatic dysfunction
her to have uncontrollable seizurescausedher to have uncontrollable seizures
dozens of seizures a daycan causedozens of seizures a day
lethal seizures in childrencan causelethal seizures in children
seizures(passive) caused byseizures
seizurescausesseizures
her seizures(passive) were caused byher seizures
individuals to have constant epilepsy seizurescausesindividuals to have constant epilepsy seizures
from gall bladder diseaseresultingfrom gall bladder disease
debilitating seizures(passive) caused bydebilitating seizures
him to have violent seizures several times a daycauseshim to have violent seizures several times a day
extreme bouts of seizures ... even while she is sleepingcausesextreme bouts of seizures ... even while she is sleeping
children to have thousands of seizures every monthcan causechildren to have thousands of seizures every month
problems(passive) caused byproblems
her epilepsy(passive) caused byher epilepsy
to some intellectual disabilityleadsto some intellectual disability
problems in the liver , heart , eyes , spine , and kidneyscausesproblems in the liver , heart , eyes , spine , and kidneys
problems with depth perceptionCan ... causeproblems with depth perception
reading problem(passive) caused byreading problem
the life challenges(passive) caused bythe life challenges
the children to regresscausesthe children to regress
severe development delays due to an extra chromosome 18causessevere development delays due to an extra chromosome 18
severe developmental delays due to an extra chromosomecausessevere developmental delays due to an extra chromosome
her crippling epileptic seizures(passive) caused byher crippling epileptic seizures
difficulties with depth perceptionmay causedifficulties with depth perception
an irresistible urge to move the legs with its uncomfortable , tingling , aching or creeping sensationscausesan irresistible urge to move the legs with its uncomfortable , tingling , aching or creeping sensations
chronic treatment causes chronic treatment chronic syndrome braincauseschronic treatment causes chronic treatment chronic syndrome brain
anxiety and depression(passive) caused byanxiety and depression
a variety of medical and developmental problems , including short height , failure of the ovaries to develop and heart defectscan causea variety of medical and developmental problems , including short height , failure of the ovaries to develop and heart defects
similar symptomscan causesimilar symptoms
to acute , severe renal and pulmonary problemsleadsto acute , severe renal and pulmonary problems
mental retardation in the children and they have very characteristic physical features that is only associated with this disordercausesmental retardation in the children and they have very characteristic physical features that is only associated with this disorder
a distinct facial appearance , intellectual disability , developmental delays and other physical challengescausesa distinct facial appearance , intellectual disability , developmental delays and other physical challenges