Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.
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Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutationsCongenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and FutureMutation update on the CHD7 gene involved in CHARGE syndromeHypogonadotropic Hypogonadism due to Novel FGFR1 MutationsBone mineral density, body composition and bone turnover in patients with congenital hypogonadotropic hypogonadism.Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experienceCongenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/PalateGenetic Overlap between Holoprosencephaly and Kallmann Syndrome.Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance.Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.Kallmann syndrome and paranoid schizophrenia: a rare combinationPrioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypesArachnoid cyst: a further anomaly associated with Kallmann syndrome?Sexuality and quality of life in congenital hypogonadisms.Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center.Kisspeptin Responsiveness Signals Emergence of Reproductive Endocrine Activity: Implications for Human Puberty.Neuroanatomical and molecular correlates of cognitive and behavioural outcomes in hypogonadal males.Childhood growth in boys with congenital hypogonadotropic hypogonadism.Kallmann syndrome patient with gender dysphoria, multiple sclerosis, and thrombophilia.New intronic Fibroblast Growth Factor Receptor 1 (FGFR1) mutation leading to disrupted splicing and Kallmann syndrome.Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.Childhood growth of females with Kallmann syndrome and FGFR1 mutations.Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population.Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadismAssessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism
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P2860
Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.
@ast
Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.
@en
type
label
Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.
@ast
Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.
@en
prefLabel
Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.
@ast
Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.
@en
P2093
P2860
P50
P356
P1476
Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.
@en
P2093
Eeva-Maria Laitinen
Elina Eklund
Kirsi Vaaralahti
Mari Tervaniemi
P2860
P2888
P356
10.1186/1750-1172-6-41
P577
2011-06-17T00:00:00Z
P5875
P6179
1001082095