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Hydrolethalus syndrome
The Hydrolethalus Syndrome Protein HYLS-1 Regulates Formation of the Ciliary Gate
Unraveling the Genetics of Joubert and Meckel-Gruber Syndromes
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Joubert Syndrome Genereview
Pallister–Hall Syndrome
Meckel–Gruber Syndrome: an Update on Diagnosis, Clinical Management, and Research Advances
Joubert Syndrome and Related Disorders Precision Panel Overview Indications Clinical Utility
Smith‐Lemli‐Opitz Syndrome — Fetal Phenotypes with Special Reference
A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems
Blueprint Genetics Neuronal Migration Disorder Panel
TALPID3 and ANKRD26 Selectively Orchestrate FBF1 Localization and Cilia Gating
The Molecular Basis of Hydrolethalus Syndrome
Blueprint Genetics Ciliopathy Panel
Cilia in Hereditary Cerebral Anomalies Sophie Thomas, Lucile Boutaud, Madeline Louise Reilly, Alexandre Benmerah
Prenatal Sonographic Features of Trisomy 13
Holoprosencephaly and Polydactyly: a Possible Expression of the Hydrolethalus Syndrome
The Molecular Genetics of Joubert Syndrome and Related Ciliopathies: the Challenges of Genetic and Phenotypic Heterogeneity
Oral-Facial-Digital Syndromes by Joseph R Siebert Phd (Dr
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NIH Public Access Author Manuscript Clin Dysmorphol
Viewed and Published Immediately Upon Acceptance Cited in Pubmed and Archived on Pubmed Central Yours — You Keep the Copyright
Syndromes and Disorders Associated with Omphalocele (Iii): Single Gene Disorders, Neural Tube Defects, Diaphragmatic Defects and Others
Identiffcation of the Meckel Syndrome Gene (MKS1)
A Mutation in KIF7 Is Responsible for the Autosomal Recessive Syndrome
Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel
A Case of an Infant Suspected As IMAGE Syndrome Who Were Finally
Computational Study of Hydrolethalus Syndrome: D211G Mutation Destabilizes the Structural Stability of HYLS1 Leading to the Formation of Nuclear Inclusions Paul M
First-Trimester Prenatal Diagnosis of Ellis-Van Creveld Syndrome
Newborndxtm Advanced Sequencing Evaluation Disorders List
Meckel Syndrome: Genetics, Perinatal Findings, and Differential Diagnosis
Meckel-Gruber Syndrome Precision Panel Overview
Inositol Polyphosphate 5-Phosphatases; New Players in the Regulation of Cilia and Ciliopathies ⇑ Sarah E
Clinical and Experimental Evidence Suggest a Link Between KIF7 and C5orf42-Related Ciliopathies Through Sonic Hedgehog Signaling
Meckel–Gruber Syndrome: an Update on Diagnosis, Clinical Management, and Research Advances
The Hydrolethalus Syndrome Protein HYLS-1 Links Core Centriole Structure to Cilia Formation
WES Gene Package Ciliopathy.Xlsx
Syndrome of the Month Hydrolethalus Syndrome
New Insight Into Human Ciliopathy 4 August 2009
Downloaded from (File: Humannet.V1.Join.Txt)
List of Diseases Analyzed By