paul kruszka
paul kruszka
Adresse e-mail validée de nih.gov
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Neurotrophins can enhance spiral ganglion cell survival after inner hair cell loss
JM Miller, DH Chi, LJ O'Keeffe, P Kruszka, Y Raphael, RA Altschuler
International Journal of Developmental Neuroscience 15 (4-5), 631-643, 1997
3281997
Diagnosis and management of Sjogren syndrome
P Kruszka, RJ O'Brian
American family physician 79 (6), 465-470, 2009
972009
Evaluation of acute pelvic pain in women
P Kruszka, SJ Kruszka
American family physician 82 (2), 141-147, 2010
822010
22q11. 2 deletion syndrome in diverse populations
P Kruszka, YA Addissie, DE McGinn, AR Porras, E Biggs, M Share, ...
American Journal of Medical Genetics Part A 173 (4), 879-888, 2017
662017
Down syndrome in diverse populations
P Kruszka, AR Porras, AK Sobering, FA Ikolo, S La Qua, V Shotelersuk, ...
American Journal of Medical Genetics Part A 173 (1), 42-53, 2017
532017
Noonan syndrome in diverse populations
P Kruszka, AR Porras, YA Addissie, A Moresco, S Medrano, GTK Mok, ...
American Journal of Medical Genetics Part A 173 (9), 2323-2334, 2017
442017
Williams–Beuren syndrome in diverse populations
P Kruszka, AR Porras, DH De Souza, A Moresco, V Huckstadt, AD Gill, ...
American Journal of Medical Genetics Part A 176 (5), 1128-1136, 2018
302018
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome
S Hong, P Hu, J Marino, SB Hufnagel, RJ Hopkin, A Toromanović, ...
Human molecular genetics 25 (10), 1912-1922, 2016
302016
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
P Kruszka, D Li, MH Harr, NR Wilson, D Swarr, EM McCormick, ...
Journal of medical genetics 52 (2), 104-110, 2015
292015
Renal growth in isolated methylmalonic acidemia
PS Kruszka, I Manoli, JL Sloan, JB Kopp, CP Venditti
Genetics in Medicine 15 (12), 990-996, 2013
292013
Muenke syndrome: An international multicenter natural history study
P Kruszka, YA Addissie, CMP Yarnell, DW Hadley, MJ Guillen Sacoto, ...
American Journal of Medical Genetics Part A 170 (4), 918-929, 2016
262016
Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature
YA Addissie, U Kotecha, RA Hart, AF Martinez, P Kruszka, M Muenke
American Journal of Medical Genetics Part A 167 (11), 2657-2663, 2015
232015
Syndromes associated with holoprosencephaly
P Kruszka, M Muenke
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2018
222018
An electronic atlas of human malformation syndromes in diverse populations
M Muenke, A Adeyemo, P Kruszka
Genetics in Medicine 18 (11), 1085-1087, 2016
222016
Rheumatic heart disease in Uganda: the association between MHC class II HLA DR alleles and disease: a case control study
E Okello, A Beaton, CK Mondo, P Kruszka, N Kiwanuka, R Odoi-Adome, ...
BMC cardiovascular disorders 14 (1), 28, 2014
222014
Whole-exome sequencing for diagnosis of Turner syndrome: toward next-generation sequencing and newborn screening
DR Murdock, FX Donovan, SC Chandrasekharappa, N Banks, C Bondy, ...
The Journal of Clinical Endocrinology & Metabolism 102 (5), 1529-1537, 2017
192017
Cohesin complex-associated holoprosencephaly
P Kruszka, SI Berger, V Casa, MR Dekker, J Gaesser, K Weiss, ...
Brain 142 (9), 2631-2643, 2019
152019
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
K Weiss, K Wigby, M Fannemel, LB Henderson, N Beck, N Ghali, ...
European Journal of Human Genetics 25 (8), 946-951, 2017
152017
Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?
P Kruszka, A Uwineza, L Mutesa, AF Martinez, Y Abe, EH Zackai, ...
Molecular genetics & genomic medicine 3 (5), 424-432, 2015
152015
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics
K Weiss, P Kruszka, MJG Sacoto, YA Addissie, DW Hadley, CK Hadsall, ...
Genetics in Medicine 20 (1), 14-23, 2018
142018
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