genotype-phenotype correlation

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1
Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes.
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2
Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation.
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3
variable clinical expression in patients with a germline men1 disease gene mutation: clues to a genotype-phenotype correlation
;Cornelis J. Lips;Koen M. Dreijerink;Jo W. Höppener
2012 icitacee 2015 - 2nd international conference on in... DOI: 10.6061/clinics/2012... 131 views
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2006 communications in computer and information science 181 views
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Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report.
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6
New trend in the epidemiology of thalassaemia.
Li, Chi-Kong;
2017 best practice & research clinical obstetrics & gyn... DOI: S1521-6934(16)30121-... 181 views
7
Lack of genotype-phenotype correlation in basal cell nevus syndrome: a Dutch multicenter retrospective cohort study.
Cosgun, B;Reinders, M G H C;van Geel, M;Steijlen, P M;van Hout, A F W;Leter, E M;van der Smagt, J J;...
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9
Association of clinical severity with FANCB variant type in Fanconi anemia.
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10
Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis
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11
benign, pathogenic and copy number variations of unknown clinical significance in patients with congenital malformations and developmental delay
;Mihaylova M;Staneva R;Toncheva D;Pancheva M;Hadjidekova S
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12
mutyh-associated polyposis (map), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors
;Tiziana eVenesio;Antonella eBalsamo;Vito eD'Agostino;Guglielmina Nadia Ranzani
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14
new multiple sclerosis disease severity scale predicts future accumulation of disability
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15
intractable epileptic spasms in a patient with pontocerebellar hypoplasia: severe phenotype of type 2 or another subtype?
;Debopam Samanta;Erin Willis
2016 Journal of global antimicrobial resistance DOI: 10.4103/0972-2327.16... 107 views
16
evolution of stenotrophomonas maltophilia in cystic fibrosis lung over chronic infection: a genomic and phenotypic population study
;Alfonso Esposito;Arianna Pompilio;Clotilde Bettua;Valentina Crocetta;Elisabetta Giacobazzi;Ersilia...
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17
vascular birthmarks: a hidden world behind a word
;Carlo Gelmetti
2018 gender, place and culture DOI: 10.4103/ijpd.IJPD_12... 80 views
18
Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: a single center experience
Olgac A;Kasapkara ÇS;Derinkuyu B;Yüksel D;Çetinkaya S;Aksoy A;Ceylaner S;Güleray N;Yeşilipek A;Aydın...
2021 journal of pediatric endocrinology & metabolism :... 113 views
19
Genomic landscape of colorectal carcinogenesis.
Kim, Jin Cheon;Bodmer, Walter F;
2022 Journal of cancer research and clinical oncology DOI: 10.1007/s00432-021-0... 142 views

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tsc2 mlpa tsc1 tuberous sclerosis complex pex mutations peroxisomal disorders men1 clinical expressionmedicine (general) basal ganglia neuropsychiatry biological psychiatry basal cell carcinoma diagnostic criteria heat map odontogenic keratocyst sufu medulloblastoma gorlin syndrome ptch1 basal cell nevus syndrome