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Keyword [de novo mutation]
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1.
Investigations In Pathogenesis Of X-liked Adrenoleukodystrophy
2.
Screening Of Pathogenic Genes In Children With Congenital Hypothyroidism With Thyroid Hypoplasia
3.
A "de-novo" Mutation In The Low Density Lipoprotein Recept Gene And The Function Of Its Associated Receptor
4.
Identification Of The De Novo Mutation At The α
2
-globin Gene And SEA Type Of α-thalassmia Deletion Causing Hemoglobin H Disease
5.
Mutation Analysis Of Inherited Hair Disorders
6.
Role Of BDNF Val66Met Functional Polymorphism In Temporal Lobe Epilepsy A Novel De Novo Mutation In GRIN2A Causes Benign Epilepsy With Centrotemporal Spikes
7.
Functional Effect Of A De Novo Mutation In BK Channel Associated With Epilepsy
8.
Construction Of De Novo Variants Knowledge Base For Psychiatric Disorders
9.
A De Novo Mutation In CHKB Induces Serious Dilated Cardiomyopathy By Disturbing Phospholipids Homeostasis
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