Jeffrey W Innis: search on Z-Library

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51

Human HOX gene disorders

Quinonez, Shane C., Innis, Jeffrey W.

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 1.12 MB

english, 2014

52

CHROMOSOMAL REARRANGEMENTS IN PATIENTS WITH CONGENITAL CARDIAC DEFECTS: A META-ANALYSIS REVEALS NOVEL POTENTIAL CRITICAL REGIONS INVOLVED IN HEART DEVELOPMENT

Thorsson, Thor, Sow, S., Levine, J., Russell, WW, El-Kashlam, N., Innis, Jeffrey, Zoellner, S., Russell, Mark

Journal:

Journal of the American College of Cardiology

Year:

2013

Language:

english

File:

PDF, 146 KB

english, 2013

53

Analysis of De Novo HOXA 13 Polyalanine Expansions Supports Replication Slippage Without Repair in Their Generation

Owens, Kailey M., Quinonez, Shane C., Thomas, Peedikayil E., Keegan, Catherine E., Lefebvre, Nanci, Roulston, Diane, Larsen, Christine A., Stadler, H. Scott, Innis, Jeffrey W.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 2.04 MB

english, 2013

54

TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome

McDermott, Deborah A, Bressan, Michael C, He, Jie, Lee, Joseph S, Aftimos, Salim, Brueckner, Martina, Gilbert, Fred, Graham, Gail E, Hannibal, Mark C, Innis, Jeffrey W, Pierpont, Mary Ella, Raas-Roths

Journal:

Pediatric Research

Year:

2005

Language:

english

File:

PDF, 241 KB

english, 2005

55

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

Saisawat, Pawaree, Tasic, Velibor, Vega-Warner, Virginia, Kehinde, Elijah O, Günther, Barbara, Airik, Rannar, Innis, Jeffrey W, Hoskins, Bethan E, Hoefele, Julia, Otto, Edgar A, Hildebrandt, Friedhelm

Journal:

Kidney International

Year:

2012

Language:

english

File:

PDF, 273 KB

english, 2012

56

Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay

Tayeh, Marwan K., Rocco, Tracy, Ackley, Todd, Ernst, Leslie, Glover, Thomas, Innis, Jeffrey W.

Journal:

Clinical Case Reports

Year:

2015

Language:

english

File:

PDF, 479 KB

english, 2015

57

De novo missense variants inPPP2R5Dare associated with intellectual disability, macrocephaly, hypotonia, and autism

Shang, Linshan, Henderson, Lindsay B., Cho, Megan T., Petrey, Donald S., Fong, Chin-To, Haude, Katrina M., Shur, Natasha, Lundberg, Julie, Hauser, Natalie, Carmichael, Jason, Innis, Jeffrey, Schuette,

Journal:

Year:

2016

Language:

english

File:

PDF, 1.31 MB

english, 2016

58

Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis

Wechsler, Stephanie Burns, Lehoczky, Jessica A., Hall, Judith G., Innis, Jeffrey W.

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 312 KB

english, 2004

59

Role of HOX genes in human development

Innis, Jeffrey W.

Journal:

Current Opinion in Pediatrics

Year:

1997

File:

PDF, 508 KB

1997

60

Campomelic Dysplasia: Airway Management in Two Patients and an Update on Clinical-Molecular Correlations in the Head and Neck

Nelson, Marc E., Griffin, Garrett R., Innis, Jeffrey W., Green, Glenn E.

Journal:

Annals of Otology, Rhinology & Laryngology

Year:

2011

Language:

english

File:

PDF, 676 KB

english, 2011

61

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease

Antonellis, Anthony, Oprescu, Stephanie N., Griffin, Laurie B., Heider, Amer, Amalfitano, Andrea, Innis, Jeffrey W.

Journal:

Year:

2018

Language:

english

File:

PDF, 876 KB

english, 2018

62

Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis

Sahinoz, Melis, Khairi, Shafaq, Cuttitta, Ashley, Brady, Graham F., Rupani, Amit, Meral, Rasimcan, Tayeh, Marwan K., Thomas, Peedikayil, Riebschleger, Meredith, Camelo-Piragua, Sandra, Innis, Jeffrey

Journal:

Clinical Diabetes and Endocrinology

Year:

2018

Language:

english

File:

PDF, 804 KB

english, 2018

63

Interstitial microdeletion of the 1p34.3p34.2 region

Jacher, Joseph E., Innis, Jeffrey W.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2018

Language:

english

File:

PDF, 316 KB

english, 2018

64

Expanding the phenotypic spectrum of MBOAT7‐related intellectual disability

Jacher, Joseph E., Roy, Nikita, Ghaziuddin, Mohammad, Innis, Jeffrey W.

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2019

Language:

english

File:

PDF, 1.58 MB

english, 2019

65

Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time

Jalal Eldin, Abdel Wahab, Tombayoglu, Dilara, Butz, Laura, Affinati, Alison, Meral, Rasimcan, Ontan, Mehmet Selman, Walkovich, Kelly, Westerhoff, Maria, Innis, Jeffrey W., Parikh, Neehar D., Oral, Eli

Journal:

Clinical Diabetes and Endocrinology

Year:

2019

Language:

english

File:

PDF, 1.00 MB

english, 2019

66

Closer and closer? Maternal immunization: current promise, future horizons

Engmann, Cyril, Fleming, Jessica A., Khan, Sadaf, Innis, Bruce L., Smith, Jeffrey M., Hombach, Joachim, Sobanjo-ter Meulen, Ajoke

Journal:

Journal of Perinatology

Year:

2020

File:

PDF, 623 KB

2020

67

Neuroinflammation in psychiatric disorders: PET imaging and promising new targets

Meyer, Jeffrey H, Cervenka, Simon, Kim, Min-Jeong, Kreisl, William C, Henter, Ioline D, Innis, Robert B

Journal:

The Lancet Psychiatry

Year:

2020

File:

PDF, 2.62 MB

2020