Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 5
Results: 53
Exome Analysis in Clinical Practice: Expanding the Phenotype of Bartsocas-Papas Syndrome Exome Analysis in Clinical Practice: Expanding the Phenotype of Bartsocas-Papas Syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1058, doi. 10.1002/ajmg.a.35913
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Analysis of De Novo HOXA 13 Polyalanine Expansions Supports Replication Slippage Without Repair in Their Generation.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1019, doi. 10.1002/ajmg.a.35843
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American Journal of Medical Genetics Part A: Volume 161A, Number 5, May 2013.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. C1, doi. 10.1002/ajmg.a.35997
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- Article
Aplasia Cutis Congenita of the Scalp in a Female Infant With Anophthalmia/ Microphthalmia- Esophageal Atresia Syndrome Negative for SOX 2 Mutation.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1189, doi. 10.1002/ajmg.a.35854
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Recurring and Generalized Visceroptosis in Ehlers- Danlos Syndrome Hypermobility Type.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1143, doi. 10.1002/ajmg.a.35825
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Narrowing the Critical Region for Congenital Vertical Talus in Patients With Interstitial 18q Deletions.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1117, doi. 10.1002/ajmg.a.35791
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Familial Microdeletion of 17q24.3 Upstream of SOX 9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1167, doi. 10.1002/ajmg.a.35847
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Evaluation of Chromosome 11p Imbalances in Aniridia and Wilms Tumor Patients.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 958, doi. 10.1002/ajmg.a.35818
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Persistent Hypertension Despite Successful Dilation of a Stenotic Renal Artery in a Boy With Neurofibromatosis Type 1.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1154, doi. 10.1002/ajmg.a.35829
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Improvement of CNS Defects Via Continuous Intrathecal Enzyme Replacement by Osmotic Pump in Mucopolysaccharidosis Type II Mice.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1036, doi. 10.1002/ajmg.a.35869
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- Article
Trilateral Retinoblastoma in a Patient With Peutz- Jeghers Syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1096, doi. 10.1002/ajmg.a.35748
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- Article
Clinical Comparison of Overlapping Deletions of 19p13.3.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1110, doi. 10.1002/ajmg.a.35923
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Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low- Level Uniparental Disomy.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 993, doi. 10.1002/ajmg.a.35831
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- Article
Dermatosparaxis ( Ehlers- Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1122, doi. 10.1002/ajmg.a.35802
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The Fibroblast Growth Factor Receptor 2 p. Ala172 Phe Mutation in Pfeiffer Syndrome- History Repeating Itself.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1158, doi. 10.1002/ajmg.a.35842
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First Evidence of Vertical Paternal Transmission of Osteopatia Striata With Cranial Sclerosis.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1173, doi. 10.1002/ajmg.a.35813
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Mosaic Deletion of the NF 1 Gene in a Patient With Cognitive Disability and Dysmorphic Features But Without Diagnostic Features of NF1.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1185, doi. 10.1002/ajmg.a.35853
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- Article
Reduces Bone Mass as in Human Apert Syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 983, doi. 10.1002/ajmg.a.35824
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Book Review.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1203, doi. 10.1002/ajmg.a.35750
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Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1105, doi. 10.1002/ajmg.a.35790
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IN THIS ISSUE.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. x, doi. 10.1002/ajmg.a.35978
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- Article
Corpus Callosum Shape Is Altered in Individuals With Nonsyndromic Cleft Lip and Palate.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1002, doi. 10.1002/ajmg.a.35835
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Fraser Syndrome: Epidemiological Study in a European Population.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1012, doi. 10.1002/ajmg.a.35839
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Fractures in Children With Neurofibromatosis Type 1 From Two NF Clinics.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 921, doi. 10.1002/ajmg.a.35541
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Polymorphisms at Regions 1p22.1 (rs560426) and 8q24 (rs1530300) Are Risk Markers for Nonsyndromic Cleft Lip and/or Palate in the Brazilian Population.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1177, doi. 10.1002/ajmg.a.35830
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Advanced Maternal Age in Polyploidy With Concurrent Aneuploidy.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1200, doi. 10.1002/ajmg.a.35870
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Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1126, doi. 10.1002/ajmg.a.35812
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Thoracic Aortic Aneurysm in Infancy in Aneurysms- Osteoarthritis Syndrome Due to a Novel SMAD 3 Mutation: Further Delineation of the Phenotype.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1028, doi. 10.1002/ajmg.a.35852
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Recurrent Pericarditis in Myhre Syndrome Recurrent Pericarditis in Myhre Syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1164, doi. 10.1002/ajmg.a.35892
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Hyperphagia, Mild Developmental Delay But Apparently No Structural Brain Anomalies in a Boy Without SOX 3 Expression.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1137, doi. 10.1002/ajmg.a.35823
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REPORT SPOTLIGHTS POTENTIAL FOR PRIVACY BREACHES.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. viii, doi. 10.1002/ajmg.a.35977
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- Article
What Is a Complex Chromosome Rearrangement?
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1181, doi. 10.1002/ajmg.a.35834
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Intestinal Ganglioneuromatosis: Unusual Presentation of Cowden Syndrome Resulting in Delayed Diagnosis.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1085, doi. 10.1002/ajmg.a.35731
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Keratoconus in Costello Syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1132, doi. 10.1002/ajmg.a.35816
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Longer Term Survival of a Child With Autosomal Recessive Cutis Laxa Due to a Mutation in FBLN4.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1148, doi. 10.1002/ajmg.a.35827
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Evaluation of Tibial Osteopathy Occurrence in Neurofibromatosis Type 1 Italian Patients.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 927, doi. 10.1002/ajmg.a.35753
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Another Rare Prenatal Case of Post- Zygotic Mosaic Trisomy 17.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1196, doi. 10.1002/ajmg.a.35867
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A De Novo Deletion at 16q24.3 Involving ANKRD 11 in a Japanese Patient With KBG Syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1073, doi. 10.1002/ajmg.a.35661
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The Role of Social Networking Sites in Medical Genetics Research.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 951, doi. 10.1002/ajmg.a.35903
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Attitudes of African Americans Toward Return of Results From Exome and Whole Genome Sequencing.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1064, doi. 10.1002/ajmg.a.35914
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PROTEINS ASSOCIATED WITH AUTISM SHOWN TO SUPPRESS PROPER SYNAPSE FORMATION: Genetic mutation leads to imbalance of inhibitory and excitatory synapses.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. vii, doi. 10.1002/ajmg.a.35976
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- Article
Intellectual Disability and Hemizygous GPD 2 Mutation.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1044, doi. 10.1002/ajmg.a.35873
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Table of Contents, Volume 161A, Number 5, May 2013.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. fm i, doi. 10.1002/ajmg.a.35998
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- Article
Case- Control Study of Maternal Residential Atrazine Exposure and Male Genital Malformations.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 977, doi. 10.1002/ajmg.a.35815
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Prenatal Presentation and Diagnostic Evaluation of Suspected Smith- Lemli- Opitz ( RSH) Syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1008, doi. 10.1002/ajmg.a.35837
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GPSM 2 and Chudley- Mc Cullough Syndrome: A Dutch Founder Variant Brought to North America.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 973, doi. 10.1002/ajmg.a.35808
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Contamination of Amniotic Fluid With Maternal Balanced t(11;22) Translocation Cells.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1101, doi. 10.1002/ajmg.a.35774
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Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 935, doi. 10.1002/ajmg.a.35942
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Partial Trisomy 18q and Epileptic Spasms Induced by Eating Associated With Bilateral Opercular Dysplasia.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1194, doi. 10.1002/ajmg.a.35859
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Simpson- Golabi- Behmel Syndrome Type 1 and Hepatoblastoma in a Patient With a Novel Exon 2-4 Duplication of the GPC 3 Gene.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1091, doi. 10.1002/ajmg.a.35738
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