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Family Affected sentence examples within whole exome sequencing



Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction


Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome

Family Affected sentence examples within Chinese Family Affected



[Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing].


Retraction Note: Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenital

Family Affected sentence examples within One Family Affected



Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree


A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia


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Family Affected sentence examples within Pakistani Family Affected



Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family


Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing.

Family Affected sentence examples within Italian Family Affected



Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene


Hearing Dysfunction in a Large Family Affected by Dominant Optic Atrophy (OPA8-Related DOA): A Human Model of Hidden Auditory Neuropathy

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Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family


TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish


Pandangan Masyarakat Terhadap Pengobatan dengan Bantuan Buaya Mistik di Desa Kuala Pembuang Kecamatan Seruyan Hilir Kabupaten Seruyan



Dilated cardiomyopathy: the role of genetics, highlighted in a family with Filamin C (FLNC) variant



Identification of a novel CTNNA1 germline mutation predisposing to melanoma: Genotype and functional effects.



COMBINED ANALYSIS OF LINKAGE AND WHOLE EXOME SEQUENCING REVEALS CIC AS A CANDIDATE GENE FOR ISOLATED DYSTONIA



Genetic analysis with pyrosequencing using loop pipetting and a light dependent resistor.



BAHASA INGGRIS DI MASA PANDEMI: KENDALA PEMBELAJARAN DI SDN AENGDAKE I



From Trauma to Recovery: Restorative Justice Conferencing in Cases of Adult Survivors of Intrafamilial Sexual Offenses



Study of Behaviors and Psychological Indicators in Iranian Medical Students During the COVID-19 Pandemic Self-Quarantine



A Novel Cohesinopathy Causing Chronic Intestinal Pseudo Obstruction in 2 Siblings and Literature Review



Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene.



Factors predicting loss of independence and mortality in frontotemporal lobar degeneration



Burn out among Iranian dental students: psychometric properties of burnout clinical subtype questionnaire (BCSQ-12-SS) and its correlates


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10.3760/cma.j.issn.1003-9406.2019.07.008

[SLC22A5 gene mutation analysis and prenatal diagnosis for a family with primary carnitine deficiency].


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10.3760/cma.j.issn.1003-9406.2019.07.018

[A case of SBBYSS syndrome caused by KAT6B gene variant].



FAMOCA, Family online counseling for families with parental cancer



Novel CYBA mutation in a family with BCGitis.


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10.3760/cma.j.issn.1003-9406.2019.06.017

[Mutation analysis of a family affected with isolated proteinuria].



Autosomal dominant neovascular inflammatory vitreoretinopathy — a case series



Joint utilization of genetic analysis and semi-cloning technology reveals a digenic etiology of Müllerian anomalies


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10.3760/cma.j.issn.1003-9406.2019.08.019

[X-linked mental retardation combined with autism caused by a novel hemizygous mutation of GRIA3 gene].



A novel mutation in the GFAP gene expands the phenotype of Alexander disease



Familial Hydrocephalus and Dysgenesis of the Corpus Callosum Associated with Xp22.33 Duplication and Stenosis of the Aqueduct of Sylvius with X-Linked Recessive Inheritance Pattern


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10.3760/cma.j.issn.1003-9406.2019.10.016

[Germinal mosaicism for partial deletion of the Dystrophin gene in a family affected with Duchenne muscular dystrophy].



Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms



Awareness And Abuse Of Ototoxic Drugs Among Health Professionals In Federal Teaching Hospital, Ido-Ekiti


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10.3760/cma.j.issn.1003-9406.2019.12.008

[Identification of ATP7B gene variant by combined use of Sanger sequencing, array CGH and quantitative PCR].



Like mother, like daughter: A case report of multiple family members affected by Pompe disease



Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556


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10.3760/cma.j.issn.1003-9406.2019.03.004

[Genetic analysis of a pedigree affected with distal hereditary motor neuronopathy V].



Truncated Epithelial Sodium Channel β Subunit Responsible for Liddle Syndrome in a Chinese Family


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10.3760/CMA.J.ISSN.1673-4386.2019.01.001

Gene mutation analysis of a family with autosomal dominant retinitis pigmentosa



Histone deacetylase 4 (HDAC4): a new player in anorexia nervosa?



A homozygous missense variant in CHRM3 associated with familial urinary bladder disease



A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy



Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation


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Family Affected 영향을 받는 가족


Family Affected 영향을 받는 가족
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