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Results 1 to 25 of 334

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A LETHAL, LARSEN-LIKE MULTIPLE JOINT DISLOCATION SYNDROMECHEN H; CHUNG HO CHANG; PERRIN E et al.1982; AM. J. MED. GENET.; ISSN 0148-7299; USA; DA. 1982; VOL. 13; NO 2; PP. 149-161; BIBL. 2 P.Article

A SYNDROME OF HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, DEAFNESS, AND ECG ABNORMALITIESWOODHOUSE NJY; SAKATI NA.1983; JOURNAL OF MEDICAL GENETICS; ISSN 0022-2593; GBR; DA. 1983; VOL. 20; NO 3; PP. 216-219; BIBL. 9 REF.Article

DERMOODONTO-DYSPLASIA: AN ELEVEN-MEMBER, FOUR GENERATION PEDIGREE WITH AN APPARENTLY HITHERLO UNDESCRIBED PURE ECTODERMAL DYSPLASIAPINHEIRO M; FREIRE MAIA N.1983; CLINICAL GENETICS; ISSN 0009-9163; DNK; DA. 1983; VOL. 24; NO 1; PP. 58-68; BIBL. 28 REF.Article

SPASTIC PARAPLEGIA, GLAUCOMA AND MENTAL RETARDATION IN THREE SIBILINGS. A NEW GENETIC SYNDROMEHEIJBEL J; JAGELL S.1981; HEREDITAS; ISSN 0018-0661; SWE; DA. 1981; VOL. 94; NO 2; PP. 203-207; BIBL. 16 REF.Article

BRIEF CLINICAL REPORT: CORNEAL DERMOIDS AND SHORT STATURE IN BROTHER AND SISTER - A NEW SYNDROME.GUIZAR VAZQUEZ J; LUENGAS MUNOZ FJ; ANTILLON F et al.1981; AM. J. MED. GENET.; ISSN 0148-7299; USA; DA. 1981; VOL. 8; NO 2; PP. 229-234; BIBL. 4 REF.Article

A POSSIBLY NEW FORM OF FAMILIAL BONE DYSPLASIA RESEMBLING DYSCHONDROSTEOSISFASANELLI S; IANNACCONE G; BELLUSSI A et al.1983; PEDIATRIC RADIOLOGY; ISSN 0301-0449; DEU; DA. 1983; VOL. 13; NO 1; PP. 25-31; BIBL. 14 REF.Article

A REVIEW AND CASE REPORT OF APROSENCEPHALY AND THE XK APROSENCEPHALY SYNDROMEMARTIN RA; CAREY JG.1982; AM. J. MED. GENET.; ISSN 0148-7299; USA; DA. 1982; VOL. 11; NO 3; PP. 369-371; BIBL. 6 REF.Article

NOONAN PHENOTYPE WITH POLYDACTYLYGRIX A JR; HALL BD.1979; BIRTH DEFECTS ORIGIN. ARTICLE SER.; USA; DA. 1979; VOL. 15; NO 5B; PP. 313-319; BIBL. 11 REF.Article

THE HYDROLETHALUS SYNDROME: DELINEATION OF A "NEW", LETHAL MALFORMATION SYNDROME BASED ON 28 PATIENTSSALONEN R; HERVA R; NORIO R et al.1981; CLIN. GENET.; ISSN 0009-9163; DNK; DA. 1981; VOL. 19; NO 5; PP. 321-330; BIBL. 7 REF.Article

ACRODYSOSTOSIS AND BLUE EYESNIIKAWA N; MATSUDA I; OHSAWA T et al.1980; HUM. GENET.; DEU; DA. 1980; VOL. 53; NO 2; PP. 285; BIBL. 4 REF.Article

PARTIAL TRISOMY 2Q SYNDROMEREHDER H; FRIEDRICH U.1979; CLIN. GENET.; DNK; DA. 1979; VOL. 15; NO 6; PP. 534-540; BIBL. 13 REF.Article

ACROCEPHALOPOLYSYNDACTYLY TYPE IV: A NEW GENETIC SYNDROME IN 3 SIBSGOODMAN RM; STERNBERG M; SHEM TOV Y et al.1979; CLIN. GENET.; DNK; DA. 1979; VOL. 15; NO 3; PP. 209-214; BIBL. 8 REF.Article

ODONTOONYCHODERMAL DYSPLASIA: A PREVIOUSLY APPARENTLY UNDESCRIBED ECTODERMAL DYSPLASIAMAHMOUD FADHIL; GHABRA TA; DEEB M et al.1983; AMERICAN JOURNAL OF MEDICAL GENETICS; ISSN 0148-7299; USA; DA. 1983; VOL. 14; NO 2; PP. 335-346; BIBL. 7 REF.Article

AN INFANT WITH RING 17 CHROMOSOME AND UNUSUAL DERMATOGLYPHS: A NEW SYNDROME .CARPENTER NJ; LEICHTMAN LG; STAMPER S et al.1981; J. MED. GENET.; ISSN 0022-2593; GBR; DA. 1981; VOL. 18; NO 3; PP. 234-236; BIBL. 7 REF.Article

STUDIO DI UNA FAMIGLIA CON DUE GERMANI AFFETTI DA MIOTONIA, INSUFFICIENZA MENTALE ED IPOSOMIA = ETUDE D'UNE FAMILLE AVEC DEUX FRERES AFFECTES DE MYOTONIE, D'INSUFFISANCE MENTALE ET DE NANISMEBRAVACCIO F; MILITERNI R; PASCOTTO A et al.1978; ARCH. NEUROPSICHIATR. PSICOANAL.; ITA; DA. 1978 PUBL. 1979; VOL. 25; NO 1-4; PP. 1-24; ABS. FRE/ENG; BIBL. 20 REF.Article

FORMAL ANALYSIS OF DYSMORPHISM: OBJECTIVE METHODS OF SYNDROME DEFINITIONPREUS M; AYME S.1983; CLINICAL GENETICS; ISSN 0009-9163; DNK; DA. 1983; VOL. 23; NO 1; PP. 1-16; BIBL. 2 P.Article

BOOMERANG DYSPLASIA. A NEW FORM OF NEONATAL DEATH DWARFISMTENGONI R; KOZLOWSKI K; LARGAIOLLI G et al.1983; ROEFOE. FORTSCHRITTE AUF DEM GEBIETE DER ROENTGENSTRAHLEN UND DER NUKLEARMEDIZIN; ISSN 0340-1618; DEU; DA. 1983; VOL. 138; NO 3; PP. 378-380; BIBL. 2 REF.Article

SEX-LINKED MENTAL RETARDATION, SHORT STATURE, OBESITY AND HYPOGONADISM: REPORT OF A FAMILYYOUNG ID; HUGHES HE.1982; J. MENT. DEFIC. RES.; ISSN 0022-264X; GBR; DA. 1982; VOL. 26; NO 3; PP. 153-162; BIBL. 18 REF.Article

NEW DELETION SYNDROME: 1Q43JUBERG RC; HANEY NR; STALLARD R et al.1981; AM. J. HUM. GENET.; ISSN 0002-9297; USA; DA. 1981; VOL. 33; NO 3; PP. 455-463; BIBL. 9 REF.Article

ATTI DEL IV CONVEGNO NAZIONALE DI CITOGENETICA MEDICA = ACTES DU 4EME CONGRES NATIONAL DE CYTOGENETIQUE MEDICALE1979; PATHOLOGICA; ITA; DA. 1979; VOL. 71; NO 1013; PP. 309-430; ABS. ENG; BIBL. DISSEM.Article

A NEWLY RECOGNIZED CONGENITAL MYASTHENIC SYNDROME ATTRIBUTED TO A PROLONGED OPEN TIME OF THE ACETYLCHOLINE-INDUCED ION CHANNELENGEL AG; LAMBERT EH; MULDER DM et al.1982; ANN. NEUROL.; ISSN 0364-5134; USA; DA. 1982; VOL. 11; NO 6; PP. 553-569; BIBL. 53 REF.Article

A NEW SYNDROME OF TRIPHALANGEAL THUMBS AND BRACHY-ECTRODACTYLYCARNEVALE A; HERNANDEZ M; DEL CASTILLO V et al.1980; CLIN. GENET.; ISSN 0009-9163; DNK; DA. 1980; VOL. 18; NO 4; PP. 244-252; BIBL. 5 REF.Article

NEW CHROMOSOMAL SYNDROMES. I: PARTIAL TRISOMY OF THE DISTAL PORTION OF THE LONG ARM OF CHROMOSOME NUMBER 10 (10Q240->10QTER): A CLINICAL ENTITYFRYNS JP; LOGGHE N; VANEYGEN M et al.1979; ACTA PAEDIATR. BELG.; BEL; DA. 1979; VOL. 32; NO 2; PP. 141-143; BIBL. 18 REF.Article

THE MASA SYNDROME: A NEW HERITABLE MENTAL RETARDATION SYNDROME = LE SYNDROME MASA: UN NOUVEAU SYNDROME HEREDITAIRE D'ARRIERATION MENTALEBIANCHINE JW; LEWIS RC JR.1974; CLIN. GENET.; DANM.; DA. 1974; VOL. 5; NO 4; PP. 298-306; BIBL. 9 REF.Article

A NEW FAMILIAL SYNDROME OF 46,XY GONADAL DYSGENESIS WITH ANOMALIES OF ECTODERMAL AND MESODERMAL STRUCTURESBROSNAN PG; LEWANDOWSKI RC; TOGURI AG et al.1980; J. PEDIATR.; ISSN 0022-3476; USA; DA. 1980; VOL. 97; NO 4; PP. 586-590; BIBL. 30 REF.Article

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