Reply: Another case of holoprosencephaly associated with RAD21 loss-of-function variant

بواسطة Kruszka, Paul
الحاوية / القاعدة Brain (2020)

Syndromes Associated with Holoprosencephaly

بواسطة Kruszka, Paul, Muenke, Maximilian
الحاوية / القاعدة Am J Med Genet C Semin Med Genet (2018)

Molecular Testing in Holoprosencephaly

بواسطة Kruszka, Paul, Martinez, Ariel F., Muenke, Maximilian
الحاوية / القاعدة Am J Med Genet C Semin Med Genet (2018)

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly

بواسطة Martinez, Ariel F., Kruszka, Paul S., Muenke, Maximilian
الحاوية / القاعدة Am J Med Genet C Semin Med Genet (2018)

Novel Heterozygous Variants in KMT2D Associated with Holoprosencephaly

بواسطة Tekendo-Ngongang, Cedrik, Kruszka, Paul, Martinez, Ariel F, Muenke, Maximilian
الحاوية / القاعدة Clin Genet (2019)

Renal Growth in Isolated Methylmalonic Acidemia (MMA)

بواسطة Kruszka, Paul S., Manoli, Irini, Sloan, Jennifer L., Kopp, Jeffrey B., Venditti, Charles P.
منشور في 2013

Rheumatic heart disease in Uganda: the association between MHC class II HLA DR alleles and disease: a case control study

بواسطة Okello, Emmy, Beaton, Andrea, Mondo, Charles K, Kruszka, Paul, Kiwanuka, Noah, Odoi-Adome, Richard, Freers, Juergen
منشور في 2014

Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlases

بواسطة Koretzky, Maya, Bonham, Vence L., Berkman, Benjamin E., Kruszka, Paul, Adeyemo, Adebowale, Muenke, Maximilian, Hull, Sara Chandros
الحاوية / القاعدة Genet Med (2016)

Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening

بواسطة Murdock, David R., Donovan, Frank X., Chandrasekharappa, Settara C., Banks, Nicole, Bondy, Carolyn, Muenke, Maximilian, Kruszka, Paul
الحاوية / القاعدة J Clin Endocrinol Metab (2017)

Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy

بواسطة Kruszka, Paul S., Kirmse, Brian, Zand, Dina J., Cusmano-Ozog, Kristina, Spector, Elaine, Van Hove, Johan L., Chapman, Kimberly A.
الحاوية / القاعدة Mol Genet Metab Rep (2014)

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

بواسطة Kruszka, Paul, Berger, Seth I., Weiss, Karin, Everson, Joshua L., Martinez, Ariel F., Hong, Sungkook, Anyane-Yeboa, Kwame, Lipinski, Robert J., Muenke, Maximilian
الحاوية / القاعدة Am J Hum Genet (2019)

Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa

بواسطة Thomford, Nicholas Ekow, Dzobo, Kevin, Yao, Nana Akyaa, Chimusa, Emile, Evans, Jonathan, Okai, Emmanuel, Kruszka, Paul, Muenke, Maximilian, Awandare, Gordon, Wonkam, Ambroise, Dandara, Collet
الحاوية / القاعدة OMICS (2018)

Cytogenetics and Holoprosencephaly: A Chromosomal Microarray Study of 222 Individuals with Holoprosencephaly

بواسطة Hu, Tommy, Kruszka, Paul, Martinez, Ariel F., Ming, Jeffrey E., Shabason, Emily K., Raam, Manu S., Shaikh, Tamim H., Pineda-Alvarez, Daniel E., Muenke, Maximilian
الحاوية / القاعدة Am J Med Genet C Semin Med Genet (2018)

Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study

بواسطة Addissie, Yonit A., Kruszka, Paul, Troia, Angela, Wong, Zoë C., Everson, Joshua L., Kozel, Beth A., Lipinski, Robert J., Malecki, Kristen M. C., Muenke, Maximilian
الحاوية / القاعدة Environ Health (2020)

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome

بواسطة Hong, Sungkook, Hu, Ping, Marino, Juliana, Hufnagel, Sophia B., Hopkin, Robert J., Toromanović, Alma, Richieri-Costa, Antonio, Ribeiro-Bicudo, Lucilene A., Kruszka, Paul, Roessler, Erich, Muenke, Maximilian
الحاوية / القاعدة Hum Mol Genet (2016)

SIX3 Deletions and Incomplete Penetrance in Families Affected by Holoprosencephaly

بواسطة Stokes, Bethany, Berger, Seth I., Hall, Beth A., Weiss, Karin, Hadley, Donald W., Murdock, David R., Ramanathan, Subhadra, Clark, Robin D., Roessler, Erich, Kruszka, Paul, Muenke, Maximilian
الحاوية / القاعدة Congenit Anom (Kyoto) (2017)

Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?

بواسطة Kruszka, Paul, Uwineza, Annette, Mutesa, Leon, Martinez, Ariel F, Abe, Yu, Zackai, Elaine H, Ganetzky, Rebecca, Chung, Brian, Stevenson, Roger E, Adelstein, Robert S, Ma, Xuefei, Mullikin, James C, Hong, Sung-Kook, Muenke, Maximilian
الحاوية / القاعدة Mol Genet Genomic Med (2015)

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

بواسطة Weiss, Karin, Wigby, Kristen, Fannemel, Madeleine, Henderson, Lindsay B, Beck, Natalie, Ghali, Neeti, Study, D D D, Anderlid, Britt-Marie, Lundin, Johanna, Hamosh, Ada, Jones, Marilyn C, Ghedia, Sondhya, Muenke, Maximilian, Kruszka, Paul
الحاوية / القاعدة Eur J Hum Genet (2017)

Executive Function and Adaptive Behavior in Muenke Syndrome

بواسطة Yarnell, Colin M.P., Addissie, Yonit A., Hadley, Donald W., Sacoto, Maria J. Guillen, Agochukwu, Nneamaka B., Hart, Rachel A., Wiggs, Edythe A., Platte, Petra, Paelecke, Yvonne, Collmann, Hartmut, Schweitzer, Tilmann, Kruszka, Paul, Muenke, Maximilian
الحاوية / القاعدة J Pediatr (2015)

Human Germline Hedgehog Pathway Mutations Predispose to Fatty Liver

بواسطة Guillen Sacoto, Maria J., Martinez, Ariel F., Abe, Yu, Kruszka, Paul, Weiss, Karin, Everson, Joshua L., Bataller, Ramon, Kleiner, David E., Ward, Jerrold M., Sulik, Kathleen K., Lipinski, Robert J., Solomon, Benjamin D., Muenke, Maximilian
الحاوية / القاعدة J Hepatol (2017)