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Atlas of X-linked intellectual disability syndromes / / Roger E. Stevenson, Charles E. Schwartz, and R. Curtis Rogers
| Atlas of X-linked intellectual disability syndromes / / Roger E. Stevenson, Charles E. Schwartz, and R. Curtis Rogers |
| Autore | Stevenson Roger E. <1940-> |
| Edizione | [Second edition.] |
| Pubbl/distr/stampa | New York : , : Oxford University Press, , [2012] |
| Descrizione fisica | 1 online resource (363 p.) |
| Disciplina | 616.85/88042 |
| Altri autori (Persone) |
SchwartzCharles E
RogersR. Curtis <1953-> (Richard Curtis) StevensonRoger E. <1940-> |
| Soggetto topico |
X-linked mental retardation
Intellectual disability |
| Soggetto genere / forma | Electronic books. |
| ISBN |
0-19-997524-8
0-19-981186-5 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Cover; TABLE OF CONTENTS; FOREWORD; PREFACE; AARSKOG SYNDROME; ABIDI SYNDROME; ADRENOLEUKODYSTROPHY; AGENESIS OF THE CORPUS CALLOSUM, X-LINKED; AHMAD SYNDROME; AICARDI SYNDROME; ALLAN-HERNDON-DUDLEY SYNDROME; ALPHA-THALASSEMIA INTELLECTUAL DISABILITY (SEE ALSO ATRX-ASSOCIATED XLID); AP1S2-ASSOCIATED XLID; APAK ATAXIA-SPASTIC DIPLEGIA SYNDROME; ARMFIELD SYNDROME; ARTS SYNDROME; ARX-ASSOCIATED XLID; ATAXIA-DEAFNESS-DEMENTIA, X-LINKED; ATKIN-FLAITZ SYNDROME; ATRX-ASSOCIATED XLID; BERGIA CARDIOMYOPATHY; BERTINI SYNDROME; BÖRJESON-FORSSMAN-LEHMANN SYNDROME; BRANCHIAL ARCH SYNDROME, X-LINKED
CANTU SYNDROMECARPENTER-WAZIRI SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID); CEREBRO-CEREBELLO-COLOBOMA SYNDROME; CEREBRO-OCULO-GENITAL SYNDROME; CEREBRO-PALATO-CARDIAC SYNDROME (SEE ALSO RENPENNING SYNDROME); CHARCOT-MARIE-TOOTH NEUROPATHY, COWCHOCK VARIANT; CHARCOT-MARIE-TOOTH NEUROPATHY, IONASESCU VARIANT; CHASSAING-LACOMBE CHONDRODYSPLASIA; CHRISTIAN SYNDROME; CHRISTIANSON SYNDROME; CHUDLEY-LOWRY SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID); CK SYNDROME; CLARK-BARAITSER SYNDROME; COFFIN-LOWRY SYNDROME; CORNELIA DE LANGE SYNDROME, X-LINKED; CRANIOFACIOSKELETAL SYNDROME CREATINE TRANSPORTER DEFICIENCYDUCHENNE MUSCULAR DYSTROPHY; DYSKERATOSIS CONGENITA; EPILEPSY-INTELLECTUAL DISABILITY IN FEMALES (EIDF); FITZSIMMONS SYNDROME; FLNA-ASSOCIATED XLID; FRAGILE X SYNDROME; GIUFFRÈ-TSUKAHARA SYNDROME; GLYCEROL KINASE DEFICIENCY; GOLABI-ITO-HALL SYNDROME: (SEE ALSO RENPENNING SYNDROME); GOLDBLATT SPASTIC PARAPLEGIA SYNDROME; GOLTZ SYNDROME; GRAHAM ANOPHTHALMIA SYNDROME; GUSTAVSON SYNDROME; HALL OROFACIAL SYNDROME; HEREDITARY BULLOUS DYSTROPHY, X-LINKED; HOLMES-GANG SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID); HOMFRAY SEIZURES-CONTRACTURES; HYDE-FORSTER SYNDROME HYDRANENCEPHALY WITH ABNORMAL GENITALIA (SEE ALSO ARX-ASSOCIATED XLID)HYDROCEPHALY-CEREBELLAR AGENESIS SYNDROME; HYDROCEPHALY-MASA SPECTRUM; HYPOPARATHYROIDISM, X-LINKED; INCONTINENTIA PIGMENTI; JUBERG-MARSIDI-BROOKS SYNDROME; KANG SYNDROME; LENZ MICROPHTHALMIA SYNDROME; LESCH-NYHAN SYNDROME; LISSENCEPHALY AND ABNORMAL GENITALIA, X-LINKED (SEE ALSO ARX-ASSOCIATED XLID); LISSENCEPHALY, X-LINKED; LOWE SYNDROME; LUJAN SYNDROME; MARTIN-PROBST SYNDROME; MEHMO SYNDROME; MENKES SYNDROME; MIDAS SYNDROME; MILES-CARPENTER SYNDROME; MOHR-TRANEBJAERG SYNDROME; MONOAMINE OXIDASE-A DEFICIENCY MUCOPOLYSACCHARIDOSIS IIAMYOTUBULAR MYOPATHY; N-ALPHA-ACETYLTRANSFERASE DEFICIENCY; NANCE-HORAN SYNDROME; NORRIE DISEASE; OPITZ FG SYNDROME; OPTIC ATROPHY, X-LINKED; ORAL-FACIAL-DIGITAL SYNDROME I; ORNITHINE TRANSCARBAMOYLASE DEFICIENCY; OTOPALATODIGITAL SYNDROME I (SEE ALSO FLNA-ASSOCIATED XLID); OTOPALATODIGITAL SYNDROME II (SEE ALSO FLNA-ASSOCIATED XLID); PAINE SYNDROME; PALLISTER W SYNDROME; PARTINGTON SYNDROME (SEE ALSO ARX-ASSOCIATED XLID); PELIZAEUS-MERZBACHER SYNDROME; PERIVENTRICULAR NODULAR HETEROTOPIA (SEE ALSO FLNA-ASSOCIATED XLID); PETTIGREW SYNDROME PHOSPHOGLYCERATE KINASE DEFICIENCY |
| Record Nr. | UNINA-9910453137303321 |
Stevenson Roger E. <1940->
|
||
| New York : , : Oxford University Press, , [2012] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Atlas of X-linked intellectual disability syndromes / / Roger E. Stevenson, Charles E. Schwartz, and R. Curtis Rogers
| Atlas of X-linked intellectual disability syndromes / / Roger E. Stevenson, Charles E. Schwartz, and R. Curtis Rogers |
| Autore | Stevenson Roger E. <1940-> |
| Edizione | [Second edition.] |
| Pubbl/distr/stampa | New York : , : Oxford University Press, , [2012] |
| Descrizione fisica | 1 online resource (363 p.) |
| Disciplina | 616.85/88042 |
| Altri autori (Persone) |
SchwartzCharles E
RogersR. Curtis <1953-> (Richard Curtis) StevensonRoger E. <1940-> |
| Soggetto topico | X-linked mental retardation |
| ISBN |
0-19-997524-8
0-19-981186-5 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Cover; TABLE OF CONTENTS; FOREWORD; PREFACE; AARSKOG SYNDROME; ABIDI SYNDROME; ADRENOLEUKODYSTROPHY; AGENESIS OF THE CORPUS CALLOSUM, X-LINKED; AHMAD SYNDROME; AICARDI SYNDROME; ALLAN-HERNDON-DUDLEY SYNDROME; ALPHA-THALASSEMIA INTELLECTUAL DISABILITY (SEE ALSO ATRX-ASSOCIATED XLID); AP1S2-ASSOCIATED XLID; APAK ATAXIA-SPASTIC DIPLEGIA SYNDROME; ARMFIELD SYNDROME; ARTS SYNDROME; ARX-ASSOCIATED XLID; ATAXIA-DEAFNESS-DEMENTIA, X-LINKED; ATKIN-FLAITZ SYNDROME; ATRX-ASSOCIATED XLID; BERGIA CARDIOMYOPATHY; BERTINI SYNDROME; BÖRJESON-FORSSMAN-LEHMANN SYNDROME; BRANCHIAL ARCH SYNDROME, X-LINKED
CANTU SYNDROMECARPENTER-WAZIRI SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID); CEREBRO-CEREBELLO-COLOBOMA SYNDROME; CEREBRO-OCULO-GENITAL SYNDROME; CEREBRO-PALATO-CARDIAC SYNDROME (SEE ALSO RENPENNING SYNDROME); CHARCOT-MARIE-TOOTH NEUROPATHY, COWCHOCK VARIANT; CHARCOT-MARIE-TOOTH NEUROPATHY, IONASESCU VARIANT; CHASSAING-LACOMBE CHONDRODYSPLASIA; CHRISTIAN SYNDROME; CHRISTIANSON SYNDROME; CHUDLEY-LOWRY SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID); CK SYNDROME; CLARK-BARAITSER SYNDROME; COFFIN-LOWRY SYNDROME; CORNELIA DE LANGE SYNDROME, X-LINKED; CRANIOFACIOSKELETAL SYNDROME CREATINE TRANSPORTER DEFICIENCYDUCHENNE MUSCULAR DYSTROPHY; DYSKERATOSIS CONGENITA; EPILEPSY-INTELLECTUAL DISABILITY IN FEMALES (EIDF); FITZSIMMONS SYNDROME; FLNA-ASSOCIATED XLID; FRAGILE X SYNDROME; GIUFFRÈ-TSUKAHARA SYNDROME; GLYCEROL KINASE DEFICIENCY; GOLABI-ITO-HALL SYNDROME: (SEE ALSO RENPENNING SYNDROME); GOLDBLATT SPASTIC PARAPLEGIA SYNDROME; GOLTZ SYNDROME; GRAHAM ANOPHTHALMIA SYNDROME; GUSTAVSON SYNDROME; HALL OROFACIAL SYNDROME; HEREDITARY BULLOUS DYSTROPHY, X-LINKED; HOLMES-GANG SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID); HOMFRAY SEIZURES-CONTRACTURES; HYDE-FORSTER SYNDROME HYDRANENCEPHALY WITH ABNORMAL GENITALIA (SEE ALSO ARX-ASSOCIATED XLID)HYDROCEPHALY-CEREBELLAR AGENESIS SYNDROME; HYDROCEPHALY-MASA SPECTRUM; HYPOPARATHYROIDISM, X-LINKED; INCONTINENTIA PIGMENTI; JUBERG-MARSIDI-BROOKS SYNDROME; KANG SYNDROME; LENZ MICROPHTHALMIA SYNDROME; LESCH-NYHAN SYNDROME; LISSENCEPHALY AND ABNORMAL GENITALIA, X-LINKED (SEE ALSO ARX-ASSOCIATED XLID); LISSENCEPHALY, X-LINKED; LOWE SYNDROME; LUJAN SYNDROME; MARTIN-PROBST SYNDROME; MEHMO SYNDROME; MENKES SYNDROME; MIDAS SYNDROME; MILES-CARPENTER SYNDROME; MOHR-TRANEBJAERG SYNDROME; MONOAMINE OXIDASE-A DEFICIENCY MUCOPOLYSACCHARIDOSIS IIAMYOTUBULAR MYOPATHY; N-ALPHA-ACETYLTRANSFERASE DEFICIENCY; NANCE-HORAN SYNDROME; NORRIE DISEASE; OPITZ FG SYNDROME; OPTIC ATROPHY, X-LINKED; ORAL-FACIAL-DIGITAL SYNDROME I; ORNITHINE TRANSCARBAMOYLASE DEFICIENCY; OTOPALATODIGITAL SYNDROME I (SEE ALSO FLNA-ASSOCIATED XLID); OTOPALATODIGITAL SYNDROME II (SEE ALSO FLNA-ASSOCIATED XLID); PAINE SYNDROME; PALLISTER W SYNDROME; PARTINGTON SYNDROME (SEE ALSO ARX-ASSOCIATED XLID); PELIZAEUS-MERZBACHER SYNDROME; PERIVENTRICULAR NODULAR HETEROTOPIA (SEE ALSO FLNA-ASSOCIATED XLID); PETTIGREW SYNDROME PHOSPHOGLYCERATE KINASE DEFICIENCY |
| Record Nr. | UNINA-9910790678803321 |
|
Stevenson Roger E. <1940->
|
||
| New York : , : Oxford University Press, , [2012] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Atlas of X-linked intellectual disability syndromes / / Roger E. Stevenson, Charles E. Schwartz, and R. Curtis Rogers
| Atlas of X-linked intellectual disability syndromes / / Roger E. Stevenson, Charles E. Schwartz, and R. Curtis Rogers |
| Autore | Stevenson Roger E. <1940-> |
| Edizione | [Second edition.] |
| Pubbl/distr/stampa | New York : , : Oxford University Press, , [2012] |
| Descrizione fisica | 1 online resource (363 p.) |
| Disciplina | 616.85/88042 |
| Altri autori (Persone) |
SchwartzCharles E
RogersR. Curtis <1953-> (Richard Curtis) StevensonRoger E. <1940-> |
| Soggetto topico | X-linked mental retardation |
| ISBN |
0-19-997524-8
0-19-981186-5 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Cover; TABLE OF CONTENTS; FOREWORD; PREFACE; AARSKOG SYNDROME; ABIDI SYNDROME; ADRENOLEUKODYSTROPHY; AGENESIS OF THE CORPUS CALLOSUM, X-LINKED; AHMAD SYNDROME; AICARDI SYNDROME; ALLAN-HERNDON-DUDLEY SYNDROME; ALPHA-THALASSEMIA INTELLECTUAL DISABILITY (SEE ALSO ATRX-ASSOCIATED XLID); AP1S2-ASSOCIATED XLID; APAK ATAXIA-SPASTIC DIPLEGIA SYNDROME; ARMFIELD SYNDROME; ARTS SYNDROME; ARX-ASSOCIATED XLID; ATAXIA-DEAFNESS-DEMENTIA, X-LINKED; ATKIN-FLAITZ SYNDROME; ATRX-ASSOCIATED XLID; BERGIA CARDIOMYOPATHY; BERTINI SYNDROME; BÖRJESON-FORSSMAN-LEHMANN SYNDROME; BRANCHIAL ARCH SYNDROME, X-LINKED
CANTU SYNDROMECARPENTER-WAZIRI SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID); CEREBRO-CEREBELLO-COLOBOMA SYNDROME; CEREBRO-OCULO-GENITAL SYNDROME; CEREBRO-PALATO-CARDIAC SYNDROME (SEE ALSO RENPENNING SYNDROME); CHARCOT-MARIE-TOOTH NEUROPATHY, COWCHOCK VARIANT; CHARCOT-MARIE-TOOTH NEUROPATHY, IONASESCU VARIANT; CHASSAING-LACOMBE CHONDRODYSPLASIA; CHRISTIAN SYNDROME; CHRISTIANSON SYNDROME; CHUDLEY-LOWRY SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID); CK SYNDROME; CLARK-BARAITSER SYNDROME; COFFIN-LOWRY SYNDROME; CORNELIA DE LANGE SYNDROME, X-LINKED; CRANIOFACIOSKELETAL SYNDROME CREATINE TRANSPORTER DEFICIENCYDUCHENNE MUSCULAR DYSTROPHY; DYSKERATOSIS CONGENITA; EPILEPSY-INTELLECTUAL DISABILITY IN FEMALES (EIDF); FITZSIMMONS SYNDROME; FLNA-ASSOCIATED XLID; FRAGILE X SYNDROME; GIUFFRÈ-TSUKAHARA SYNDROME; GLYCEROL KINASE DEFICIENCY; GOLABI-ITO-HALL SYNDROME: (SEE ALSO RENPENNING SYNDROME); GOLDBLATT SPASTIC PARAPLEGIA SYNDROME; GOLTZ SYNDROME; GRAHAM ANOPHTHALMIA SYNDROME; GUSTAVSON SYNDROME; HALL OROFACIAL SYNDROME; HEREDITARY BULLOUS DYSTROPHY, X-LINKED; HOLMES-GANG SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID); HOMFRAY SEIZURES-CONTRACTURES; HYDE-FORSTER SYNDROME HYDRANENCEPHALY WITH ABNORMAL GENITALIA (SEE ALSO ARX-ASSOCIATED XLID)HYDROCEPHALY-CEREBELLAR AGENESIS SYNDROME; HYDROCEPHALY-MASA SPECTRUM; HYPOPARATHYROIDISM, X-LINKED; INCONTINENTIA PIGMENTI; JUBERG-MARSIDI-BROOKS SYNDROME; KANG SYNDROME; LENZ MICROPHTHALMIA SYNDROME; LESCH-NYHAN SYNDROME; LISSENCEPHALY AND ABNORMAL GENITALIA, X-LINKED (SEE ALSO ARX-ASSOCIATED XLID); LISSENCEPHALY, X-LINKED; LOWE SYNDROME; LUJAN SYNDROME; MARTIN-PROBST SYNDROME; MEHMO SYNDROME; MENKES SYNDROME; MIDAS SYNDROME; MILES-CARPENTER SYNDROME; MOHR-TRANEBJAERG SYNDROME; MONOAMINE OXIDASE-A DEFICIENCY MUCOPOLYSACCHARIDOSIS IIAMYOTUBULAR MYOPATHY; N-ALPHA-ACETYLTRANSFERASE DEFICIENCY; NANCE-HORAN SYNDROME; NORRIE DISEASE; OPITZ FG SYNDROME; OPTIC ATROPHY, X-LINKED; ORAL-FACIAL-DIGITAL SYNDROME I; ORNITHINE TRANSCARBAMOYLASE DEFICIENCY; OTOPALATODIGITAL SYNDROME I (SEE ALSO FLNA-ASSOCIATED XLID); OTOPALATODIGITAL SYNDROME II (SEE ALSO FLNA-ASSOCIATED XLID); PAINE SYNDROME; PALLISTER W SYNDROME; PARTINGTON SYNDROME (SEE ALSO ARX-ASSOCIATED XLID); PELIZAEUS-MERZBACHER SYNDROME; PERIVENTRICULAR NODULAR HETEROTOPIA (SEE ALSO FLNA-ASSOCIATED XLID); PETTIGREW SYNDROME PHOSPHOGLYCERATE KINASE DEFICIENCY |
| Record Nr. | UNINA-9910822414203321 |
|
Stevenson Roger E. <1940->
|
||
| New York : , : Oxford University Press, , [2012] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||