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- [21] An Amino Acid Deletion inSZT2 in a Family with Non-Syndromic Intellectual DisabilityPLOS ONE, 2013, 8 (12):Falcone, Michelle论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USAYariz, Kemal O.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USARoss, David B.论文数: 0 引用数: 0 h-index: 0机构: Comprehens Neurobehav Inst, Plantation, FL USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USAFoster, Joseph, II论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USAMenendez, Ibis论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USATekin, Mustafa论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA
- [22] SCREENING FOR MUTATIONS IN NON-SYNDROMIC AUTOSOMAL RECESSIVE INTELLECTUAL DISABILITY GENES IN NON-CONSANGUINEOUS INTELLECTUAL DISABILITY AND AUTISM POPULATIONSEUROPEAN NEUROPSYCHOPHARMACOLOGY, 2017, 27 : S299 - S299Vincent, John论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Toronto, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaHarripaul, Ricardo论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Toronto, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaSantavy, Larysa论文数: 0 引用数: 0 h-index: 0机构: Queen Univ, Dept Psychiat, Kingston, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaNcNaughton, Amy论文数: 0 引用数: 0 h-index: 0机构: Queen Univ, Dept Psychiat, Kingston, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaMittal, Kirti论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Toronto, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaVasli, Nasim论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Toronto, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaMikhailov, Anna论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Toronto, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaHenry, Cameron论文数: 0 引用数: 0 h-index: 0机构: Queen Univ, Dept Psychiat, Kingston, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaHudson, Melissa论文数: 0 引用数: 0 h-index: 0机构: Queen Univ, Dept Psychiat, Kingston, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaWindpassinger, Christian论文数: 0 引用数: 0 h-index: 0机构: Med Univ, Graz, Austria Ctr Addict & Mental Hlth, Toronto, ON, CanadaStavropoulos, James论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Childern, Toronto, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaCarter, Melissa论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Childern, Toronto, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaLimprasert, Pornprot论文数: 0 引用数: 0 h-index: 0机构: Prince Songhkla Univ, Hat Yai, Thailand Ctr Addict & Mental Hlth, Toronto, ON, CanadaAyub, Muhammad论文数: 0 引用数: 0 h-index: 0机构: Queen Univ, Dept Psychiat, Kingston, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaLiu, Xudong论文数: 0 引用数: 0 h-index: 0机构: Queen Univ, Dept Psychiat, Kingston, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, Canada
- [23] Novel LINS1 Missense Mutation in a Family with Non-Syndromic Intellectual DisabilityAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (04) : 1041 - 1046Sheth, Jayesh论文数: 0 引用数: 0 h-index: 0机构: FRIGEs Inst Human Genet, FRIGE House, Ahmadabad 380015, Gujarat, India FRIGEs Inst Human Genet, FRIGE House, Ahmadabad 380015, Gujarat, IndiaRanjan, Gyan论文数: 0 引用数: 0 h-index: 0机构: SRM Univ, Dept Genet Engn, Kattankulathur, Tamil Nadu, India FRIGEs Inst Human Genet, FRIGE House, Ahmadabad 380015, Gujarat, IndiaShah, Krati论文数: 0 引用数: 0 h-index: 0机构: FRIGEs Inst Human Genet, FRIGE House, Ahmadabad 380015, Gujarat, India FRIGEs Inst Human Genet, FRIGE House, Ahmadabad 380015, Gujarat, IndiaBhavsar, Riddhi论文数: 0 引用数: 0 h-index: 0机构: FRIGEs Inst Human Genet, FRIGE House, Ahmadabad 380015, Gujarat, India FRIGEs Inst Human Genet, FRIGE House, Ahmadabad 380015, Gujarat, IndiaSheth, Frenny论文数: 0 引用数: 0 h-index: 0机构: FRIGEs Inst Human Genet, FRIGE House, Ahmadabad 380015, Gujarat, India FRIGEs Inst Human Genet, FRIGE House, Ahmadabad 380015, Gujarat, India
- [24] Utilizing array CGH to scan all chromosomes in a patient with non-syndromic intellectual disabilityCHROMOSOME RESEARCH, 2015, 23 (02) : 392 - 392Deilamani, Khordadpoor F.论文数: 0 引用数: 0 h-index: 0机构: Islamic Azad Univ, Dept Biol, Sci & Res Branch, Tehran, Iran Tehran Med Genet Lab, Tehran, Iran Islamic Azad Univ, Dept Biol, Sci & Res Branch, Tehran, Iran论文数: 引用数: h-index:机构:
- [25] Diagnosis and therapy of syndromic and non-syndromic craniosynostosisHNO, 2003, 51 (03) : 198 - 208Cedzich, C论文数: 0 引用数: 0 h-index: 0机构: Klinikum Sud Nurnberg, Zentrum Spalt & Schadelanomalien, Neurochirurg Klin, D-90471 Nurnberg, GermanyFarmand, M论文数: 0 引用数: 0 h-index: 0机构: Klinikum Sud Nurnberg, Zentrum Spalt & Schadelanomalien, Neurochirurg Klin, D-90471 Nurnberg, Germany
- [26] Genetic causes of syndromic and non-syndromic autismDEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2010, 52 (02): : 130 - 138Caglayan, Ahmet O.论文数: 0 引用数: 0 h-index: 0机构: Kayseri Educ & Res Hosp, Dept Med Genet, Kayseri, Turkey Kayseri Educ & Res Hosp, Dept Med Genet, Kayseri, Turkey
- [27] Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patientsBMC MEDICAL GENOMICS, 2018, 11Cabanillas, Ruben论文数: 0 引用数: 0 h-index: 0机构: Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainDineiro, Marta论文数: 0 引用数: 0 h-index: 0机构: Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainCifuentes, Guadalupe A.论文数: 0 引用数: 0 h-index: 0机构: Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainCastillo, David论文数: 0 引用数: 0 h-index: 0机构: Dis Res & Med DREAMgenics SL, Oviedo, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainPruneda, Patricia C.论文数: 0 引用数: 0 h-index: 0机构: Dis Res & Med DREAMgenics SL, Oviedo, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainAlvarez, Rebeca论文数: 0 引用数: 0 h-index: 0机构: Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainSanchez-Duran, Noelia论文数: 0 引用数: 0 h-index: 0机构: Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainCapin, Raquel论文数: 0 引用数: 0 h-index: 0机构: Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainPlasencia, Ana论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Cent Asturias, Oviedo, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainViejo-Diaz, Monica论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Cent Asturias, Oviedo, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainGarcia-Gonzalez, Noelia论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Cent Asturias, Oviedo, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainHernando, Ines论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Cent Asturias, Oviedo, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainLlorente, Jose L.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Cent Asturias, Oviedo, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainReparaz-Andrade, Alfredo论文数: 0 引用数: 0 h-index: 0机构: Hosp Alvaro Cunqueiro, Vigo, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainTorreira-Banzas, Cristina论文数: 0 引用数: 0 h-index: 0机构: Hosp Alvaro Cunqueiro, Vigo, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainRosell, Jordi论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Palma de Mallorca, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainGovea, Nancy论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Palma de Mallorca, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainRamon Gomez-Martinez, Justo论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Cent Asturias, Oviedo, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainNunez-Batalla, Faustino论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Cent Asturias, Oviedo, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainGarrote, Jose A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Rio Hortega, Valladolid, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainMazon-Gutierrez, Angel论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Marques De Valdecilla, Santander, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainCostales, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Cent Asturias, Oviedo, Spain Hosp Univ Marques De Valdecilla, Santander, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainIsidoro-Garcia, Maria论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Biomed Salamanca, Salamanca, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainGarcia-Berrocal, Belen论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Biomed Salamanca, Salamanca, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainOrdonez, Gonzalo R.论文数: 0 引用数: 0 h-index: 0机构: Dis Res & Med DREAMgenics SL, Oviedo, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, SpainCadinanos, Juan论文数: 0 引用数: 0 h-index: 0机构: Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, Spain Inst Med Oncol Mol Asturias IMOMA SA, Avda Richard Grandio S-N, Oviedo 33193, Spain
- [28] Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patientsBMC Medical Genomics, 11Rubén Cabanillas论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Marta Diñeiro论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Guadalupe A. Cifuentes论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,David Castillo论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Patricia C. Pruneda论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Rebeca Álvarez论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Noelia Sánchez-Durán论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Raquel Capín论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Ana Plasencia论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Mónica Viejo-Díaz论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Noelia García-González论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Inés Hernando论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,José L. Llorente论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Alfredo Repáraz-Andrade论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Cristina Torreira-Banzas论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Jordi Rosell论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Nancy Govea论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Justo Ramón Gómez-Martínez论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Faustino Núñez-Batalla论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,José A. Garrote论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Ángel Mazón-Gutiérrez论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,María Costales论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,María Isidoro-García论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Belén García-Berrocal论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Gonzalo R. Ordóñez论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,Juan Cadiñanos论文数: 0 引用数: 0 h-index: 0机构: Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A,
- [30] Non-syndromic craniosynostosisNature Reviews Disease Primers, 11 (1)Michael Alperovich论文数: 0 引用数: 0 h-index: 0机构: Yale University School of Medicine,Division of Plastic Surgery, Department of Surgery Yale University School of Medicine,Division of Plastic Surgery, Department of SurgeryCristiano Tonello论文数: 0 引用数: 0 h-index: 0机构: University of Sao Paulo,Hospital for Rehabilitation of Craniofacial Anomalies Yale University School of Medicine,Division of Plastic Surgery, Department of SurgeryLinda C. Mayes论文数: 0 引用数: 0 h-index: 0机构: Yale University School of Medicine,Child Study Center Yale University School of Medicine,Division of Plastic Surgery, Department of SurgeryKristopher T. Kahle论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Neurosurgery, Massachusetts General Hospital Yale University School of Medicine,Division of Plastic Surgery, Department of Surgery