Isolated and syndromic forms of congenital anosmia

Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: Olfactory bulb aplasia and anosmia

(2011) J.C. Gerber et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Loss-of-function mutations in sodium channel Nav1.7 cause anosmia

(2011) Jan Weiss et al.   NATURE

WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

(2010) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nonsense Mutations inFGF8Gene Causing Different Degrees of Human Gonadotropin-Releasing Deficiency

(2010) Ericka B. Trarbach et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits

(2010) Nicholas Eriksson et al.   PLoS Genetics

Complaints of olfactory disorders: epidemiology, assessment and clinical implications

(2009) Steven Nordin et al.   Current Opinion in Allergy and Clinical Immunology

Familiar absence of olfaction

(2009) C. S. Lygonis   HEREDITAS

PACS-1 Mediates Phosphorylation-Dependent Ciliary Trafficking of the Cyclic-Nucleotide-Gated Channel in Olfactory Sensory Neurons

(2009) P. M. Jenkins et al.   JOURNAL OF NEUROSCIENCE

Two novel SCN9A mutations causing insensitivity to pain

(2009) K. B. Nilsen et al.   PAIN

Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

(2008) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Genome-Wide Screen for Hyposmia Susceptibility Loci

(2008) J. M. Pinto et al.   CHEMICAL SENSES

Endocrine and Radiological Studies in Patients with Molecularly Confirmed CHARGE Syndrome

(2007) Yumi Asakura et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM