Zoekresultaten - Carey, John C

Neurocutaneous disease: A practical approach door Carey, John C.

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Teratogenic Effects of Drugs: A Resource for Clinicians (TERIS) door Carey, John C.

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The trisomy 18 syndrome door Cereda, Anna, Carey, John C

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Health-Related Quality of Life Measures in Genetic Disorders: an Outcome Variable for Consideration in Clinical Trials door Stevenson, David A., Carey, John C.

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New Syndrome: A Novel Multiple Congenital Anomaly-Mental Retardation Syndrome with Pierre Robin Sequence and Cerebellar Hypoplasia in Two Sisters door Stevenson, David A., Carey, John C.

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Clinical utility gene card for: Wolf–Hirschhorn (4p-) syndrome door Battaglia, Agatino, South, Sarah, Carey, John C

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Familial Congenital Nonimmune Hydrops, Chylothorax and Pulmonary Lymphangiectasia door Stevenson, David A., Pysher, Theodore J., Ward, Robert M., Carey, John C.

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Elements of Morphology: Introduction door Allanson, Judith E, Biesecker, Leslie G, Carey, John C, Hennekam, Raoul CM

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Clinical and Molecular Aspects of an Informative Family with Neurofibromatosis Type 1 and Noonan Phenotype door Stevenson, David A., Viskochil, David H., Rope, Alan F., Carey, John C.

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Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister–Killian syndrome door Filloux, Francis M., Carey, John C., Krantz, Ian D., Ekstrand, Jeffrey J., Candee, Meghan S.

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Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay door Tidwell, Timothy, Deshotel, Malia, Palumbos, Janice, Miller, Chris, Bayrak-Toydemir, Pinar, Carey, John C.

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Etiology and clinical presentation of birth defects: population based study door Feldkamp, Marcia L, Carey, John C, Byrne, Janice L B, Krikov, Sergey, Botto, Lorenzo D

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Mutations in TNNT3 Cause Multiple Congenital Contractures: A Second Locus for Distal Arthrogryposis Type 2B door Sung, Sandy S., Brassington, Anna-Marie E., Krakowiak, Patrycja A., Carey, John C., Jorde, Lynn B., Bamshad, Michael

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Plasma Zinc Concentrations of Mothers and the Risk of Oral Clefts in their Children in Utah door Munger, Ronald G., Tamura, Tsunenobu, Johnston, Kelley E., Feldkamp, Marcia, Pfister, Roxane, Botto, Lorenzo, Carey, John C

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Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf–Hirschhorn Syndrome door Andersen, Erica F, Carey, John C, Earl, Dawn L, Corzo, Deyanira, Suttie, Michael, Hammond, Peter, South, Sarah T

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Congenital Chylous Ascites and Ehlers-Danlos Syndrome Type VI door Ermarth, Anna K., Pohl, John, Esty, Brittany, Sempler, Jessica K., Carey, John C., O’Gorman, Molly A.

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Motor Proficiency in Children with Neurofibromatosis Type 1 door Johnson, Barbara, MacWilliams, Bruce, Carey, John C., Viskochil, David H., D’Astous, Jacques L., Stevenson, David A.

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Lower Extremity Strength and Hopping and Jumping Ground Reaction forces in Children with Neurofibromatosis Type 1 door Johnson, Barbara, MacWilliams, Bruce, Carey, John C., Viskochil, David H., D’Astous, Jacques L., Stevenson, David A.

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Elements of Morphology: Standard Terminology for the External Genitalia door Hennekam, Raoul C.M., Allanson, Judith E., Biesecker, Leslie G., Carey, John C., Opitz, John M., Vilain, Eric

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Clinical and Risk Factor Analysis of Cloacal Defects in the National Birth Defects Prevention Study door Keppler-Noreuil, Kim M., Conway, Kristin M., Shen, Dereck, Rhoads, Anthony J., Carey, John C., Romitti, Paul A.

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