| scholarly article | Q13442814 |
| P50 | author | Shinji Saitoh | Q42713063 |
| Yutaka Negishi | Q91216373 | ||
| P2093 | author name string | Hiroko Tada | |
| Yasuyuki Nozaki | |||
| Hirofumi Komaki | |||
| Takanori Yamagata | |||
| Jun Tohyama | |||
| Keisuke Nagasaki | |||
| Daisuke Ieda | |||
| Ikumi Hori | |||
| P2860 | cites work | Regulation of WASH-dependent actin polymerization and protein trafficking by ubiquitination | Q24321352 |
| The retromer complex - endosomal protein recycling and beyond | Q26866457 | ||
| An overview of the MAGE gene family with the identification of all human members of the family | Q28206480 | ||
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| Retromer in Alzheimer disease, Parkinson disease and other neurological disorders | Q34462122 | ||
| The MAGE proteins: emerging roles in cell cycle progression, apoptosis, and neurogenetic disease | Q34561533 | ||
| Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders | Q34866575 | ||
| Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis | Q36133257 | ||
| Human genetic variation database, a reference database of genetic variations in the Japanese population | Q37060586 | ||
| Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism | Q37284354 | ||
| The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families | Q37424136 | ||
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| Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation. | Q40410496 | ||
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| Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes | Q43172557 | ||
| Epidemiology of febrile and afebrile convulsions in children in Japan | Q43498549 | ||
| Methylation-specific PCR simplifies imprinting analysis | Q48050614 | ||
| Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene | Q49491869 | ||
| Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome. | Q50418480 | ||
| Prader-Willi syndrome. | Q51826464 | ||
| Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs. | Q52056090 | ||
| Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes. | Q52170199 | ||
| Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders. | Q52337610 | ||
| Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities. | Q52708352 | ||
| Schaaf-Yang syndrome overview: Report of 78 individuals | Q57282387 | ||
| A Novel Mutation of in a Patient with Schaaf-Yang Syndrome and Hypopituitarism | Q57496443 | ||
| Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype | Q57557290 | ||
| MAGEL2-related disorders: A study and case series | Q92522024 | ||
| P433 | issue | 1 | |
| P921 | main subject | Prader-Willi syndrome due to point mutation | Q48789662 |
| P304 | page(s) | 277 | |
| P577 | publication date | 2019-12-02 | |
| P1433 | published in | Orphanet Journal of Rare Diseases | Q15756117 |
| P1476 | title | Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy | |
| P478 | volume | 14 |
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