Loading ...
other medical conditionsmay ... causeFLOTCH syndrome
an underlying conditioncausingFLOTCH syndrome
151846301.A novel mitochondrial tRNAPhe mutationcausesMERRF syndrome
L. A novel mitochondrial tRNAPhe mutationcausesMERRF syndrome
Siciliano G. A novel mitochondrial tRNAPhe mutationcausesMERRF syndrome
enterovirus infection Letters to the editor Spontaneous recovery of opsoclonusmyoclonus syndrome caused by enterovirus infection Free BRAHIM TABARKIService de Neurologie , Département de Pédiatrie , Hôpital Bicêtre , 78 rue du Général Leclerc , 94275 Le Kremlin Bicêtre , FranceService de Virologie , Hôpital Saint Vincent de Paul , 75014 Paris , FranceService de Neurologie , Département de Pédiatrie , Hôpital Bicêtre , 78 rue du Général Leclerc , 94275 Le Kremlin Bicêtre , FranceDr Guillaume Sébire , Service de Neurologie , Département de Pédiatrie , Hôpital Bicêtre , 78 rue du Général Leclerc , 94275 Le Kremlin Bicêtre , France(passive) caused byopsoclonusmyoclonus syndrome
defective R1 / p53R2 assembly | Journal of Medical Genetics Kearns – Sayre syndrome caused by defective R1 / p53R2 assembly Robert D S Pitceathly1 , Elisa Fassone2,3 , Jan - Willem Taanman4 , Michael Sadowski5 , Carl Fratter6 , Ese E Mudanohwo7 , Cathy E Woodward7 , Mary G Sweeney7(passive) caused bySayre syndrome
defective R1 / p53R2 assembly 9(passive) caused bySayre syndrome
mutations in mitochondrial DNA , which in sperm cells is typically lost during fertilisation(passive) is caused byMERRF syndrome
2003 Identical large scale rearrangement of mitochondrial DNAcausesKearns - Sayre syndrome
a novel mutation in the EIF2AK3 gene Anna Biason - Lauber University Children s Hospital , Division of Pediatric Endocrinology Diabetology , Steinwiesstrasse 75 , 8032(passive) caused byWolcott - Rallison syndrome
deletion of mitochondrial DNA ( mtDNA(passive) is caused byKearns - Sayre syndrome
other pain meds & amp ; anti - depressants w / savellawill causeSertonin syndrome
Similar Publications Novel partial duplication of EYA1causesbranchiootic syndrome
defective R1 / p53R2 assembly ( 4 March , 2011(passive) caused bySayre syndrome
a single , large deletion of mitochondrial DNA(passive) is ... caused byKearns - Sayre syndrome ( KSS
two novel RRM2B mutations.50 adult patients with multiple mtDNA deletions in skeletal muscle(passive) caused byKearns - Sayre syndrome ( KSS
NEUROD1 , IER3IP1 , MNX1 , NEUROG3 , NKX2 - 2 , RFX6 , GLIS3 , PTF1A , PDX1 ) , recessively inherited mutations in the EIF2AK3 genecauseWolcott - Rallison syndrome
a maternally - inherited mutation at position 8344 in the mitochondrial genome(passive) is caused byMERRF syndrome
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6397657 PMC Novel partial duplication of EYA1causesbranchiootic syndrome
Branchio - oto - renal syndrome caused by partial EYA1 ... - Springer Link - MAFIADOC.COM Partial androgen insensitivity syndrome caused by a Novel partial duplication of EYA1causesbranchiootic syndrome
nonsense mutations in the gene coding for the small bHLH transcription factor known as TWIST2 in Puerto Rican and Omani patients(passive) is caused bySetleis Syndrome
20(1):69 - 75 Dantas VG , Freitas EL , Della - Rosa VA , Lezirovitz K , de Moraes AM , Ramos SB , Oiticica J , Alves LU , Pearson PL , Rosenberg C , Mingroni - Netto RC , Novel partial duplication of EYA1causesbranchiootic syndrome
the same mutation in mitochondrial DNA [ 8 , 9(passive) are caused byKearns - Sayre syndrome
disrupted IFT - A - mediated retrograde ciliary transport(passive) is caused bySensenbrenner syndrome
WDR19 mutations who demonstrated different features in renal ultrasound and histopathological results(passive) caused bySensenbrenner syndrome
five tRNA genes ( tRNAGly , Arg , Ser(AGY ) , Leu(CUN ) , His ) , DeltamtDNA5196causingKearns - Sayre syndrome
defective R1 / p53(passive) caused byKearns - Sayre syndrome
A rare neuromuscular diseasecausesKearns - Sayre syndrome
sindrome de kearns sayre defects in mitochondriawhich are structures within cells that us oxygen to convert the energy from food into a form that can be used by cells(passive) is causedKearns - Sayre syndrome
IFT140 compound heterozygous mutations(passive) caused bySensenbrenner syndrome
deletions of large portions of mitochondrial DNA(passive) is caused byKearns - Sayre syndrome
defects in mitochondria , which are structures within cells that use oxygen to convert the energy from food into a form that can be used by cells(passive) is caused byKearns - Sayre syndrome
defects in mitochondria , which are structures within cells that us oxygen to convert the energy from food into a form that can be used by cells(passive) is caused byKearns - Sayre syndrome
inactivating mutations of PERK in humans ( 28(passive) caused byWolcott - Rallison syndrome
enterovirus infection | Journal of Neurology , Neurosurgery & Psychiatry Skip to main content Volume 64(passive) caused byopsoclonusmyoclonus syndrome
enterovirus infection TABARKI , B. | PALMER , P. | LEBON , P. | SEBIRE , G. Journal of Neurology , Neurosurgery , and Psychiatry 1998;64(3):406 - 407(passive) caused byopsoclonusmyoclonus syndrome
TWIST2 genecausingSetleis syndrome
the reasons ... folic acid deficiencymay contributeto Kearns - Sayre syndrome
my antidepressant when combined with other medications(passive) caused bysertonin syndrome
a person to lose full function of heart , eye and muscle movementscausesa person to lose full function of heart , eye and muscle movements
problems with sight and hearingcreatesproblems with sight and hearing
muscle weakness , deafness , kidney problems and dementiacan causemuscle weakness , deafness , kidney problems and dementia
referralshould promptreferral
loss of proper functioning in the eye , heart and musclescausesloss of proper functioning in the eye , heart and muscles
her to have shorter limbs and to grow at a slower rate than other children , as well as experiencing liver and kidney problemscausesher to have shorter limbs and to grow at a slower rate than other children , as well as experiencing liver and kidney problems
vision and hearing problemscausesvision and hearing problems
my legs to feel coldcausesmy legs to feel cold
Complications of Kearns - Sayre Syndrome(passive) are caused byComplications of Kearns - Sayre Syndrome
if left untreatedcan resultif left untreated
eye problems , tremors , heart blockage and deafnesscan causeeye problems , tremors , heart blockage and deafness
fixed drug allergy causescausesfixed drug allergy causes
from PERK deficiency due to EIF2AK3 loss‐of‐function mutationsresultingfrom PERK deficiency due to EIF2AK3 loss‐of‐function mutations
Rachel Godshall to her first ever trip to a UMDF Symposium , Mitochondrial Medicine 2019ledRachel Godshall to her first ever trip to a UMDF Symposium , Mitochondrial Medicine 2019
excess mitochondria in muscle cellscausesexcess mitochondria in muscle cells
from this mutation site ... 8resultsfrom this mutation site ... 8
pigment to build up behind the eye and comes with a horrible bonus of heart diseasecausespigment to build up behind the eye and comes with a horrible bonus of heart disease
cardiac conduction abnormalitiescausescardiac conduction abnormalities
night blindness ... but contrarily , these patients do not eventually lose central visioncan causenight blindness ... but contrarily , these patients do not eventually lose central vision
a rearrangement from TRAJ7 to the PPP2R5C genecauseda rearrangement from TRAJ7 to the PPP2R5C gene
early - onset diabetes and acute hepatic failurecausesearly - onset diabetes and acute hepatic failure
from MF ( 10 , 11resultsfrom MF ( 10 , 11
Insatiable HungerThe MightyG20 leaders hold first meeting since Brexit voteReuters VideosTrumpCausesInsatiable HungerThe MightyG20 leaders hold first meeting since Brexit voteReuters VideosTrump
ophthalmoplegiacausesophthalmoplegia