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mutations in the CHD7 gene in the majority of cases(passive) is caused byCHARGE syndrome
mutations in the CHD7 gene Mutations in the CHD7 gene(passive) caused byCHARGE syndrome
heterozygous CHD7 mutations(passive) is ... caused byCHARGE syndrome
2155426714.CHD7 mutationscausingCHARGE syndrome
at least one genecausingC.H.A.R.G.E. Syndrome
Milunsky A. Delayed puberty due to a novel mutation in CHD7causingCHARGE syndrome
a mutation in CHD7 ( OMIM 608892(passive) caused byCHARGE syndrome
unidentified genomic microdeletion(passive) could be caused byCHARGE syndrome
CHD7 mutation GENERIF , Score=1000(passive) caused byCHARGE syndrome
a mutation in the CHD7 gene on chromosome 8(passive) is usually caused byCHARGE syndrome
heterozygous mutation in the CHD7 gene located on chromosome 8q12(passive) is caused byCHARGE syndrome
the heterozygous mutation in the CHD7 on chromosome 8q12 , which is first discovered in 2004 by Vissers(passive) is ... caused byCHARGE syndrome
hypoplasia in CHARGE syndrome Tian Yu et al Mutations in CHD7causeCHARGE syndrome
In 2004 , mutations of CHD7 , which encodes chromodomain helicase DNA - binding protein , were foundto causeCHARGE syndrome
changes in a particular gene , usually the CHD7 gene(passive) is caused byCHARGE syndrome
a mutation ( change ) in a particular gene , usually the CHD7 gene(passive) can be caused byCHARGE syndrome
the haploinsufficiency of the CHD7 gene(passive) to be caused byCHARGE syndrome
functionally relevant changes in the CHD7 gene(passive) caused byCHARGE syndrome
CHD[bredagenetics.com(passive) caused byCHARGE syndrome
a defect in one or more genes ( including CHD7 ) which is of critical importance during embryonic development(passive) is caused byCHARGE syndrome
a dominant variant in the CHD7 gene(passive) is caused byCHARGE syndrome
mutations within chromodomain helicase DNA - binding protein 7 ( chd7(passive) is ... caused byCHARGE ) syndrome
haploinsufficiency of a chromodomain chromatin - remodeling factor , Chromodomain - Helicase - DNA - binding protein 7 ( CHD7(passive) is caused byCHARGE syndrome
functional mutations and the disruption of an individual duplicate of CHD7 by way of structural variationcould causethe CHARGE syndrome
mutations in the chromodomain helicase DNA binding protein-7 ( CHD7 ) gene(passive) is ... caused byCHARGE syndrome
Mutations in human Chd7causesCHARGE syndrome
mutations in the ' ' CHD7(passive) is caused byBackground==== CHARGE syndrome
deletion of region upstream of CHD7 gene ... sufficient per seto causeCHARGE syndrome
spontaneous loss - of - function mutations(passive) is caused byCHARGE syndrome
a mutation in the gene CHD7 located on chromosome 8(passive) is caused byCHARGE syndrome
heterozygous mutations in the chromatin remodeler , CHD7(passive) is caused byCHARGE syndrome
a genetic anomaly(passive) is caused byCharge Syndrome
functional mutations and the disruption of a single copy of CHD7 by means of structural variationcan causethe CHARGE syndrome
most often(passive) is ... causedCHARGE syndrome
CHD7 ( 12(passive) caused byCHARGE syndrome
Loss of CHD7 by microdeletion or intragenic mutationcausesCHARGE syndrome
of coloboma , heart defects , choanal atresia , growth retardation , genital abnormalities and ear abnormalities(passive) is composedThe CHARGE syndrome
several different gene changes or mistakes(passive) can be caused byCHARGE syndrome
In 2014 , certain variants of CHD7 , which encodes chromodomain helicase DNA - binding protein , were foundto causeCHARGE syndrome
a small deletion of chromosome 8(passive) is genetically caused byThe CHARGE Syndrome
a wide range of challenges such as hearing loss , heart defects , airway abnormalities , feeding issues and sensory and balance issuescausesa wide range of challenges such as hearing loss , heart defects , airway abnormalities , feeding issues and sensory and balance issues
in severe learning difficulties , visual impairment , hearing impairment , autism and a heart conditionhas resultedin severe learning difficulties , visual impairment , hearing impairment , autism and a heart condition
a pattern of related birth defects which affect the eyescausesa pattern of related birth defects which affect the eyes
coloboma , heart defects , atresia choanae , and ear abnormalitiescausescoloboma , heart defects , atresia choanae , and ear abnormalities
to deafness , blindness , and a multitude of other diagnosesoften leadsto deafness , blindness , and a multitude of other diagnoses
several issues to her health such as heart failure , facial paralysis ... cleft lip and pallet , profound hearing loss and brain damagehas causedseveral issues to her health such as heart failure , facial paralysis ... cleft lip and pallet , profound hearing loss and brain damage
in loss of hearing , sight , and smellresultsin loss of hearing , sight , and smell
a combination of acute physical and mental disabilitiescausesa combination of acute physical and mental disabilities
a loss of hearing , vision and smellcausesa loss of hearing , vision and smell
extensive physical difficultiescan causeextensive physical difficulties
heart defects , growth retardations , and other abnormalities affecting many areas of the bodycausesheart defects , growth retardations , and other abnormalities affecting many areas of the body
in vision problems and deafnessresultingin vision problems and deafness
hearing and vision loss as well as a number of medical problemscan causehearing and vision loss as well as a number of medical problems
multiple life - threatening problems in a newborn , such as facial bone and nerve defects that cause breathing and swallowing difficulties , deafness and blindness , heart defects , genital problems and growth retardationcausesmultiple life - threatening problems in a newborn , such as facial bone and nerve defects that cause breathing and swallowing difficulties , deafness and blindness , heart defects , genital problems and growth retardation
to her vision and hearing loss , blocked nasal passages , brain and spinal cord problems , and limited growthcontributedto her vision and hearing loss , blocked nasal passages , brain and spinal cord problems , and limited growth
from the abnormal development of the neural crestresultsfrom the abnormal development of the neural crest
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