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Results 1 to 25 of 276

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Severe Neurologic Manifestations From Cervical Spine Instability in Spondylo-Megaepiphyseal-Metaphyseal DysplasiaSIMON, Marleen; CAMPOS-XAVIER, Ana Belinda; GARCIA-SEGARRA, Nuria et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 3, pp 230-237, issn 1552-4868, 8 p.Article

Amelia: A Multi-Center Descriptive Epidemiologic Study in a Large Dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the LiteratureBERMEJO-SANCHEZ, Eva; CUEVAS, Lourdes; FELDKAMP, Marcia L et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2011, Vol 157, Num 4, pp 288-304, issn 1552-4868, 17 p.Article

Conjoined Twins: A Worldwide Collaborative Epidemiological Study of the International Clearinghouse for Birth Defects Surveillance and ResearchMUTCHINICK, Osvaldo M; LUNA-MUNOZ, Leonora; ZHU LI et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2011, Vol 157, Num 4, pp 274-287, issn 1552-4868, 14 p.Article

Very Rare Defects: What Can We Learn?CASTILLA, Eduardo E; MASTROIACOVO, Pierpaolo.American journal of medical genetics. Part C, Seminars in medical genetics. 2011, Vol 157, Num 4, pp 252-261, issn 1552-4868, 10 p.Article

Newborn Screening and Inborn Errors of MetabolismPASQUALI, Marzia; LONGO, Nicola.American journal of medical genetics. Part C, Seminars in medical genetics. 2011, Vol 157, Num 1, issn 1552-4868, 79 p.Serial Issue

Skeletal Muscle Pathology in Costello and Cardio-Facio-Cutaneous Syndromes: Developmental Consequences of Germline Ras/MAPK Activation on MyogenesisTIDYMAN, William E; LEE, Han S; RAUEN, Katherine A et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2011, Vol 157, Num 2, pp 104-114, issn 1552-4868, 11 p.Article

Cardio-Facio-Cutaneous Syndrome: Does Genotype Predict Phenotype?ALLANSON, Judith E; ANNEREN, Göran; VERLOES, Alain et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2011, Vol 157, Num 2, pp 129-135, issn 1552-4868, 7 p.Article

Monitoring for Teratogenic Signals: Pregnancy Registries and Surveillance MethodsHOWARD, Tammie B; TASSINARI, Melissa S; FEIBUS, Karen B et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2011, Vol 157, Num 3, pp 209-214, issn 1552-4868, 6 p.Article

Influencing Clinical Practice Regarding the Use of Antiepileptic Medications During Pregnancy: Modeling the Potential Impact on the Prevalences of Spina Bifida and Cleft Palate in the United StatesGILBOA, Suzanne M; BROUSSARD, Cheryl S; DEVINE, Owen J et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2011, Vol 157, Num 3, pp 234-246, issn 1552-4868, 13 p.Article

Holoprosencephaly Flashcards: A Summary for the ClinicianSOLOMON, Benjamin D; PINEDA-ALVAREZ, Daniel E; MERCIER, Sandra et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2010, Vol 154, Num 1, pp 3-7, issn 1552-4868, 5 p.Article

Epidemiology of Holoprosencephaly: Prevalence and Risk FactorsORIOLI, Iêda M; CASTILLA, Eduardo E.American journal of medical genetics. Part C, Seminars in medical genetics. 2010, Vol 154, Num 1, pp 13-21, issn 1552-4868, 9 p.Article

Holoprosencephaly and Agnathia Spectrum: Presentation of Two New Patients and Review of the LiteratureKAUVAR, Emily F; SOLOMON, Benjamin D; CURRY, Cynthia J. R et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2010, Vol 154, Num 1, pp 158-169, issn 1552-4868, 12 p.Article

Auditory Function and Hearing Loss in Children and Adults With Williams Syndrome: Cochlear Impairment in Individuals With Otherwise Normal HearingMARLER, Jeffrey A; SITCOVSKY, Jessica L; MERVIS, Carolyn B et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2010, Vol 154, Num 2, pp 249-265, issn 1552-4868, 17 p.Article

Behavioral Phenotypes in Neurogenetic SyndromesBATTAGLIA, Agatino; FISCH, Gene S.American journal of medical genetics. Part C, Seminars in medical genetics. 2010, Vol 154, Num 4, issn 1552-4868, 100 p.Serial Issue

The Behavioral Phenotype of the Angelman SyndromeWILLIAMS, Charles A.American journal of medical genetics. Part C, Seminars in medical genetics. 2010, Vol 154, Num 4, pp 432-437, issn 1552-4868, 6 p.Article

The Genetics of Twinning: From Splitting Eggs to Breaking ParadigmsSHUR, Natasha.American journal of medical genetics. Part C, Seminars in medical genetics. 2009, Vol 151, Num 2, issn 1552-4868, 200 p.Serial Issue

Clinical Significance of ChimerismABUELO, Dianne.American journal of medical genetics. Part C, Seminars in medical genetics. 2009, Vol 151, Num 2, pp 148-151, issn 1552-4868, 4 p.Article

The Molecular Basis of Oral-Facial-Digital Syndrome, Type 1MACCA, Marina; FRANCO, Brunella.American journal of medical genetics. Part C, Seminars in medical genetics. 2009, Vol 151, Num 4, pp 318-325, issn 1552-4868, 8 p.Article

Religious Traditions and Prenatal Genetic CounselingANDERSON, Rebecca Rae.American journal of medical genetics. Part C, Seminars in medical genetics. 2009, Vol 151, Num 1, pp 52-61, issn 1552-4868, 10 p.Conference Paper

High Risk Studies and Developmental Antecedents of Anxiety DisordersHIRSHFELD-BECKER, Dina R; MICCO, Jamie A; SIMOES, Nicole A et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2008, Vol 148, Num 2, pp 99-117, issn 1552-4868, 19 p.Article

Identification of Neurogenetic Pathways of Risk for PsychopathologyFISHER, Patrick M; MUNOZ, Karen E; HARIRI, Ahmad R et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2008, Vol 148, Num 2, pp 147-153, issn 1552-4868, 7 p.Article

Gastroschisis : Clinical Presentation and AssociationsHUNTER, Alasdair G. W; STEVENSON, Roger E.American journal of medical genetics. Part C, Seminars in medical genetics. 2008, Vol 148, Num 3, pp 219-230, issn 1552-4868, 12 p.Article

Clinical Considerations in Gastroschisis : Incremental Advances Against a Congenital Anomaly With Severe Secondary EffectsNICHOL, Peter F; BYRNE, Janice L. B. B; DODGION, Christopher et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2008, Vol 148, Num 3, pp 231-240, issn 1552-4868, 10 p.Article

Aneuploidy screening in the first trimesterSPENCER, Kevin.American journal of medical genetics. Part C, Seminars in medical genetics. 2007, Vol 145, Num 1, pp 18-32, issn 1552-4868, 15 p.Article

Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosisSHAFFER, Lisa G; BUI, The-Hung.American journal of medical genetics. Part C, Seminars in medical genetics. 2007, Vol 145, Num 1, pp 87-98, issn 1552-4868, 12 p.Article

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