About: Journal de genetique humaine

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journal

Attributes	Values
rdf:type	Item
description	journal (en) czasopismo naukowe (pl) revista científica (es) ساینَسی رِسالہٕ (ks) revue scientifique (fr) rivista scientifica (it) науковий журнал (uk) wissenschaftliche Fachzeitschrift (de) wetenschappelijk tijdschrift (nl)
language of work or name	wds:Q27711490-8F5C0CBE-2FEA-4E1B-AB12-395E51649559
language of work or name	French
rdfs:label	Journal de genetique humaine (en) Journal de genetique humaine (es) Journal de genetique humaine (it) Journal de genetique humaine (nl) Journal de genetique humaine (ast) Journal de génétique humaine (fr)
skos:prefLabel	Journal de genetique humaine (en) Journal de genetique humaine (es) Journal de genetique humaine (it) Journal de genetique humaine (nl) Journal de genetique humaine (ast) Journal de génétique humaine (fr)
name	Journal de genetique humaine (en) Journal de genetique humaine (es) Journal de genetique humaine (it) Journal de genetique humaine (nl) Journal de genetique humaine (ast) Journal de génétique humaine (fr)
title	wds:Q27711490-47B47332-53BE-43B0-9237-1BC5246E56FE wds:Q27711490-646D2E7A-97DE-4CA0-B97D-78D564D53CD9
title	Journal de genetique humaine (en) Journal de génétique humaine (fr)
NLM Unique ID	wds:Q27711490-3EA54C21-42CE-4A35-BD92-7C29A88A35A8
ACNP journal ID	wds:Q27711490-917147DB-3E09-422E-B8C4-DD14DE6D087E
NLM Unique ID	2983308R
ACNP journal ID	2291
instance of	wds:Q27711490-B5B6C4AC-E0CF-4433-9007-B2F5F1E1591E
instance of	scientific journal
skos:altLabel	J Genet Hum (en)
OpenAlex ID	wds:Q27711490-8B7E603D-55FC-4EF3-9A10-BAC45017A007
country of origin	wds:Q27711490-26BE5CF3-13D2-4FA8-8F28-14A638C30D42
OpenAlex ID	V2756380663
country of origin	Switzerland
Scopus source ID	wds:Q27711490-24F1D0D9-A321-49FD-A5BF-883C4635F4CC
ISSN	wds:Q27711490-283AA5F0-057E-422B-8FEB-D9B45215DFDD
ISSN-L	wds:Q27711490-313178E9-CB6B-4760-AD27-03685604C63C
indexed in bibliographic review	wds:Q27711490-EFD08AB7-0C22-4A98-BDDB-9E63CC33522D
ISSN	urn:ISSN:0021-7743
ISSN-L	http://issn.org/resource/ISSN/0021-7743
Scopus source ID	33997
ISSN	0021-7743
ISSN-L	0021-7743
indexed in bibliographic review	Scopus
Online Books Page publication ID	wds:Q27711490-02ba30b2-438b-a0f5-6385-7fc873cc6c77
Online Books Page publication ID	jgenethum
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q27711490
is cites work of	Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients Epidemiology of Motor-Neuron Diseases Familial holoprosencephaly, heart defects, and polydactyly The Spectrum of Renal Disease in Laurence–Moon–Biedl Syndrome Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy) Progressive Spinal Muscular Atrophy with Onset in Infancy or Early Childhood Hyperinsulinism in Infancy and Childhood The genetic significance of accessory bisatellited marker chromosomes Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q) Body fat, puberty and fertility Chromosome 15 anomalies and the Prader-Willi syndrome: Cytogenetic analysis Telomeric association of chromosomes in B-cell lymphoid leukemia A ‘Fish-eye disease’ familial condition with massive corneal opacities and hypoalphalipoproteinaemia: clinical, biochemical and genetic features Vestibular and Auditory Function in Usher's Syndrome Comparative teratogenic activities of two retinoids: Effects on palate and limb development Duplication (6q) syndrome diagnosedin utero The fragile X(q27) form of X-linked mental retardation: FUdR as an inducing agent for fra(X)(q27) expression in lymphocytes, fibroblasts, and amniocytes Association of the Beckwith — Wiedemann and Prune Belly Syndromes X-Linked muscular dystrophy The acrocallosal syndrome Tables of cranial and orbital measurements, cranial volume, and derived indexes in males and females from 7 days to 20 years of age The genetic structure of the kuwaiti population II: The distribution of Q-band chromosomal heteromorphisms The Progerias Multiple “marker” chromosomes: A novel cytogenetic finding in a patient with mental retardation and congenital anomalies New syndrome? Ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery Myotonic Dystrophy of Steinert: Are Anxiety and Depression Necessarily Concomittants? The Wildervanck Syndrome: Cervico-Oculo-Acoustic Dysplasia Radiological aspects of oculo-auriculo-vertebral dysplasia Ascher Syndrome: A Case Study Physical and genetic mapping of the CDR gene with particular reference to its position with respect to the FRAXA site Waardenburg's Syndrome in Two Siblings, Both Parents and Their Maternal Grandmother Fryns syndrome without diaphragmatic hernia? Hereditary Defects Affecting Fertility Bilateral Cataracts, Retinal Detachment and Vitreous Hemorrhage in a Newborn with Congenital Diaphragmatic Hernia The deafness, onycho-osteo-dystrophy, mental retardation syndrome X;6 translocation in a child with congenital acute lymphocytic leukemia Variability in the phenotypic expression of abnormal sarcosine metabolism in a family Discordance of signs in monozygotic twins concordant for the goldenhar anomaly Genetic counseling in duchenne muscular dystrophy Early Diagnosis and Prevention of Genetic Disease Soradic ulcerative mutilating acropathy with imbalance of free amino acids in the cerebrospinal fluid The Beckwith-Wiedemann syndrome in four African infants

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