Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias

American Journal of Medical Genetics Part C Seminars in Medical Genetics ◽

10.1002/ajmg.c.31937 ◽

2021 ◽

Author(s):

Karina C. Silveira ◽

Thatiane Y. Kanazawa ◽

Cynthia Silveira ◽

Maria D. J. Lacarrubba‐Flores ◽

Benilton S. Carvalho ◽

...

Keyword(s):

Molecular Diagnosis ◽

Skeletal Dysplasias

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Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole‐exome sequencing: a retrospective cohort study

Clinical Genetics ◽

10.1111/cge.13976 ◽

2021 ◽

Author(s):

Li Zhang ◽

Lijuan Pan ◽

Yanling Teng ◽

Desheng Liang ◽

Zhuo Li ◽

...

Keyword(s):

Cohort Study ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Molecular Diagnosis ◽

Retrospective Cohort Study ◽

Retrospective Cohort ◽

Skeletal Dysplasias ◽

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Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal

Clinical Genetics ◽

10.1111/j.1399-0004.2008.01123.x ◽

2009 ◽

Vol 75 (2) ◽

pp. 150-156 ◽

Author(s):

MR Almeida ◽

AB Campos-Xavier ◽

A Medeira ◽

I Cordeiro ◽

AB Sousa ◽

...

Keyword(s):

Growth Factor ◽

Fibroblast Growth Factor ◽

Molecular Diagnosis ◽

Fibroblast Growth Factor Receptor ◽

Growth Factor Receptor ◽

Fibroblast Growth ◽

Gene Encoding ◽

Skeletal Dysplasias

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1504: Molecular Diagnosis and Staging of Prostate Cancer Using Clusterin in Real Time Reverse Transcription Polymerase Chain Reaction (RT-PCR)

The Journal of Urology ◽

10.1016/s0022-5347(18)33708-x ◽

2006 ◽

Vol 175 (4S) ◽

pp. 485-486

Author(s):

Sabarinath B. Nair ◽

Christodoulos Pipinikas ◽

Roger Kirby ◽

Nick Carter ◽

Christiane Fenske

Keyword(s):

Prostate Cancer ◽

Polymerase Chain Reaction ◽

Real Time ◽

Molecular Diagnosis ◽

Reverse Transcription ◽

Rt Pcr ◽

Chain Reaction ◽

Polymerase Chain

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Genetic intra-tumour heterogeneity in epithelial ovarian cancer and its implications for molecular diagnosis of tumours

Yearbook of Pathology and Laboratory Medicine ◽

10.1016/s1077-9108(08)70618-2 ◽

2008 ◽

Vol 2008 ◽

pp. 135-136 ◽

Author(s):

D. Jukic

Keyword(s):

Ovarian Cancer ◽

Epithelial Ovarian Cancer ◽

Molecular Diagnosis ◽

Tumour Heterogeneity

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P2917 Prenatal molecular diagnosis is possible in familial hypertrophic cardiomyopathy

European Heart Journal ◽

10.1016/s0195-668x(03)95695-8 ◽

2003 ◽

Vol 24 (5) ◽

pp. 561

Author(s):

P CHARRON

Keyword(s):

Hypertrophic Cardiomyopathy ◽

Molecular Diagnosis ◽

Familial Hypertrophic Cardiomyopathy

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Molecular diagnosis in mitochondrial respiratory chain deficiency using exome sequencing

Neuropediatrics ◽

10.1055/s-0033-1337715 ◽

2013 ◽

Vol 44 (02) ◽

Author(s):

R Kopajtich ◽

T Haack ◽

B Haberberger ◽

J Mayr ◽

W Sperl ◽

...

Keyword(s):

Exome Sequencing ◽

Respiratory Chain ◽

Molecular Diagnosis ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Deficiency ◽

Mitochondrial Respiratory

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Skeletal dysplasias-diagnosis, management and prospects for future therapies

Endocrine Abstracts ◽

10.1530/endoabs.51.en1.1 ◽

2017 ◽

Author(s):

Michael Wright

Keyword(s):

Skeletal Dysplasias

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GENETIC ANALYSIS AND MOLECULAR DIAGNOSIS OF IRANIAN PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISEASES

10.26226/morressier.57bc1758d462b80290b4d32d ◽

2016 ◽

Author(s):

Hassan Abolhassani

Keyword(s):

Genetic Analysis ◽

Primary Immunodeficiency ◽

Molecular Diagnosis ◽

Primary Immunodeficiency Diseases ◽

Immunodeficiency Diseases ◽

Iranian Patients

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THE PRIMARY IMMUNODEFICIENCY RESEARCH GROUP: A MULTIDISCPLINARY TEAM PROVIDING MOLECULAR DIAGNOSIS OF PRIMARY IMMUNODEFICIENCY DISEASES IN SOUTH AFRICA

10.26226/morressier.57bc1758d462b80290b4d2dd ◽

2016 ◽

Author(s):

Craig Kinnear

Keyword(s):

South Africa ◽

Primary Immunodeficiency ◽

Molecular Diagnosis ◽

Research Group ◽

Primary Immunodeficiency Diseases ◽

Immunodeficiency Diseases ◽

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BIG DELETIONS IN COMMON PID-RELATED GENES AND ITS DETECTION FOR MOLECULAR DIAGNOSIS

10.26226/morressier.594a7d45d462b8028d89341c ◽

2017 ◽

Author(s):

María Bravo

Keyword(s):

Molecular Diagnosis

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