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Clinical Genetics
Latest Publications
TOTAL DOCUMENTS
9320
(FIVE YEARS 612)
H-INDEX
103
(FIVE YEARS 9)
Published By Wiley (Blackwell Publishing)
1399-0004, 0009-9163
Latest Documents
Most Cited Documents
Contributed Authors
Related Sources
Related Keywords
Latest Documents
Most Cited Documents
Contributed Authors
Related Sources
Related Keywords
Genetic risk of hyperuricemia in hypertensive patients associated with antihypertensive drug therapy: a longitudinal study
Clinical Genetics
◽
10.1111/cge.14110
◽
2022
◽
Author(s):
Yu Chen
◽
Yunyun Yang
◽
Yixuan Zhong
◽
Jian Li
◽
Tao Kong
◽
...
Keyword(s):
Longitudinal Study
◽
Drug Therapy
◽
Antihypertensive Drug
◽
Genetic Risk
◽
Antihypertensive Drug Therapy
◽
Hypertensive Patients
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A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11
Clinical Genetics
◽
10.1111/cge.14108
◽
2022
◽
Author(s):
Yi‐Dan Liu
◽
Shu‐Shu Huang
◽
Mei Li
◽
Monkol Lek
◽
Dan‐Yu Song
◽
...
Keyword(s):
Retinitis Pigmentosa
◽
Retinol Dehydrogenase
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Bi‐Allelic null variant in Matrix Metalloproteinase‐15 MMP ‐15, causes Congenital Cardiac Defect, Cholestasis Jaundice and Failure to Thrive
Clinical Genetics
◽
10.1111/cge.14107
◽
2022
◽
Author(s):
Hanadi A. Abdelrahman
◽
Nadia Akawi
◽
Aisha M. Al‐Shamsi
◽
Amanat Ali
◽
Fatma Al‐Jasmi
◽
...
Keyword(s):
Matrix Metalloproteinase
◽
Failure To Thrive
◽
Cardiac Defect
◽
Congenital Cardiac Defect
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Corrigendum
Clinical Genetics
◽
10.1111/cge.14092
◽
2022
◽
Vol 101
(2)
◽
pp. 272-272
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Issue Information
Clinical Genetics
◽
10.1111/cge.13982
◽
2022
◽
Vol 101
(2)
◽
pp. 147-147
Download Full-text
Di‐genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition
Clinical Genetics
◽
10.1111/cge.14106
◽
2021
◽
Author(s):
Orli Michaeli
◽
Hagay Ladany
◽
Ayelet Erez
◽
Shay Ben Shachar
◽
Shai Izraeli
◽
...
Keyword(s):
Pediatric Cancer
◽
Cancer Predisposition
◽
Pathogenic Variants
◽
Unique Condition
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Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB
Clinical Genetics
◽
10.1111/cge.14101
◽
2021
◽
Author(s):
Giulia Pascolini
◽
Chiara Passarelli
◽
Martina Lipari
◽
Balasubramanian Chandramouli
◽
Giovanni Chillemi
◽
...
Keyword(s):
Inner Ear
◽
Italian Family
◽
Retraction Syndrome
◽
Duane Retraction Syndrome
◽
Neurodevelopmental Phenotype
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A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome
Clinical Genetics
◽
10.1111/cge.14105
◽
2021
◽
Author(s):
Nur Canpolat
◽
Dingxiao Liu
◽
Emine Atayar
◽
Seha Saygili
◽
Nazli Sila Kara
◽
...
Keyword(s):
Central Nervous System
◽
Nervous System
◽
Hemolytic Uremic Syndrome
◽
Splice Site
◽
Atypical Hemolytic Uremic Syndrome
◽
Splice Site Mutation
◽
Site Mutation
◽
Uremic Syndrome
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Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing
Clinical Genetics
◽
10.1111/cge.14103
◽
2021
◽
Author(s):
Yumi Enomoto
◽
Takayuki Yokoi
◽
Yoshinori Tsurusaki
◽
Hiroaki Murakami
◽
Makiko Tominaga
◽
...
Keyword(s):
Genetic Analysis
◽
Whole Genome Sequencing
◽
Genome Sequencing
◽
Whole Genome
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Pathogenic ‘germline’ variants associated with myeloproliferative disorders in apparently normal individuals: inherited or acquired genetic alterations?
Clinical Genetics
◽
10.1111/cge.14104
◽
2021
◽
Author(s):
Reiner Veitia
◽
Hideki Innan
Keyword(s):
Myeloproliferative Disorders
◽
Genetic Alterations
◽
Germline Variants
◽
Normal Individuals
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