E-LIB Suche - Ergebnisse für: Leonard, Norma

1

Delineating the expanding phenotype of HERC2‐related disord..:

Vincent, Krista M. ; Eaton, Alison ; Yassaee, Vahid Reza...
Clinical Genetics. 100 (2021) 5 - p. 637-640 , 2021

Link: https://doi.org/10.1111/..

2

Prevalence of Childhood Permanent Hearing Loss after Early ..:

Bork, Karin T. ; To, Beatrice P. ; Leonard, Norma J....
The Journal of Pediatrics. 198 (2018) - p. 104-109 , 2018

Link: https://doi.org/10.1016/..

3

Miller–Dieker Syndrome Associated with Congenital Lobar Emp..:

Leonard, Norma ; Davies, Dawn ; Aziz, Khalid.
American Journal of Perinatology Reports. 4 (2014) 1 - p. 013-016 , 2014

Link: https://doi.org/10.1055/..

4

Transmission of the rare HRAS mutation (c. 173C > T; p.T58I..:

Gripp, Karen W. ; Hopkins, Elizabeth ; Serrano, Alvaro...
American Journal of Medical Genetics Part A. 158A (2012) 5 - p. 1095-1101 , 2012

Link: https://doi.org/10.1002/..

5

Familial Recurrence of Cerebral Palsy with Multiple Risk Fa..:

Richer, Lawrence P. ; Dower, Nancy A. ; Leonard, Norma..
Case Reports in Pediatrics. 2011 (2011) - p. 1-5 , 2011

Link: https://doi.org/10.1155/..

6

Atypical facet of Möbius syndrome: Association with faciosc..:

Kolski, Hanna K. ; Leonard, Norma J. ; Lemmers, Richard J.L.F..
Muscle & Nerve. 37 (2008) 4 - p. 526-529 , 2008

Link: https://doi.org/10.1002/..

7

Costello syndrome associated with novel germline HRAS mutat..:

Gripp, Karen W. ; Innes, A. Micheil ; Axelrad, Marni E....
American Journal of Medical Genetics Part A. 146A (2008) 6 - p. 683-690 , 2008

Link: https://doi.org/10.1002/..

8

Intracranial calcification, retinopathy, and osteopenia: a ..:

Sazgar, Mona ; Leonard, Norma J ; Renaud, Deborah L..
Pediatric Neurology. 26 (2002) 4 - p. 324-328 , 2002

Link: https://doi.org/10.1016/..

9

Prenatal diagnosis of holoprosencephaly (HPE) in a fetus wi..:

Leonard, Norma J. ; Tomkins, Darrell J. ; Demianczuk, Nestor
Prenatal Diagnosis. 20 (2000) 12 - p. 947-949 , 2000

Link: https://doi.org/10.1002/..

10

Polytopic anomalies with agenesis of the lower vertebral co..:

Bohring, Axel ; Lewin, Susan O. ; Reynolds, James F....
American Journal of Medical Genetics. 87 (1999) 2 - p. 99-114 , 1999

Link: https://doi.org/10.1002/..

11

Analysis of chromosomal abnormalities in human sperm after ..:

Martin, Renée H. ; Rademaker, Alfred W. ; Leonard, Norma Jean
Cancer Genetics and Cytogenetics. 80 (1995) 1 - p. 29-32 , 1995

Link: https://doi.org/10.1016/..

12

Miller–Dieker Syndrome Associated with Congenital Lobar Emp..:

Mahgoub, Linda ; Aziz, Khalid ; Davies, Dawn.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2014

Link: http://www.ncbi.nlm.nih...

13

Mutations in the telomere capping complex in bone marrow fa..:

Walne, Amanda J ; Bhagat, Tanya ; Kirwan, Michael...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659926. , 2013

Link: http://www.ncbi.nlm.nih...

14

Transmission of the Rare HRAS Mutation (c. 173C > T; p.T58I..:

Gripp, Karen W ; Hopkins, Elizabeth ; Serrano, Alvaro...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2012

Link: http://www.ncbi.nlm.nih...

15

Miller–Dieker Syndrome Associated with Congenital Lobar Emp..:

Linda Mahgoub ; Khalid Aziz ; Dawn Davies.
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0033-1364192. , 2014

Link: https://doi.org/10.1055/..