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Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome.
Published in:
Human Genetics, 2021, v. 140, n. 4, p. 667, doi. 10.1007/s00439-020-02239-y
By:
- Mikhael, Sasha;
- Dugar, Sonal;
- Morton, Madison;
- Chorich, Lynn P.;
- Tam, Kerlene Berwick;
- Lossie, Amy C.;
- Kim, Hyung-Goo;
- Knight, James;
- Taylor, Hugh S.;
- Mukherjee, Souhrid;
- Capra, John A.;
- Phillips III, John A.;
- Friez, Michael;
- Layman, Lawrence C.
Publication type:
Article
Analysis of X‐inactivation status in a Rett syndrome natural history study cohort.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1917
By:
- Fang, Xiaolan;
- Butler, Kameryn M.;
- Abidi, Fatima;
- Gass, Jennifer;
- Beisang, Arthur;
- Feyma, Timothy;
- Ryther, Robin C.;
- Standridge, Shannon;
- Heydemann, Peter;
- Jones, Mary;
- Haas, Richard;
- Lieberman, David N;
- Marsh, Eric D.;
- Benke, Tim A.;
- Skinner, Steve;
- Neul, Jeffrey L.;
- Percy, Alan K.;
- Friez, Michael J.;
- Caylor, Raymond C.
Publication type:
Article
X‐Linked intellectual disability update 2022.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 144, doi. 10.1002/ajmg.a.63008
By:
- Schwartz, Charles E.;
- Louie, Raymond J.;
- Toutain, Annick;
- Skinner, Cindy;
- Friez, Michael J.;
- Stevenson, Roger E.
Publication type:
Article
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2988, doi. 10.1002/ajmg.a.62913
By:
- Cooley Coleman, Jessica A.;
- Fee, Timothy;
- Bend, Renee;
- Louie, Raymond;
- Annese, Fran;
- Stallworth, Jennifer;
- Worthington, Jessica;
- Buchanan, Caroline Black;
- Everman, David B.;
- Skinner, Steven;
- Friez, Michael J.;
- Jones, Julie R.;
- Spellicy, Catherine J.
Publication type:
Article
Schimke XLID syndrome results from a deletion in BCAP31.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2168, doi. 10.1002/ajmg.a.61755
By:
- Louie, Raymond J.;
- Collins, Debra L.;
- Friez, Michael J.;
- Skinner, Cindy;
- Schwartz, Charles E.;
- Stevenson, Roger E.
Publication type:
Article
Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 595, doi. 10.1002/ajmg.a.61443
By:
- Louie, Raymond J.;
- Friez, Michael J.;
- Skinner, Cindy;
- Baraitser, Michael;
- Clark, Robin D.;
- Schwartz, Charles E.;
- Stevenson, Roger E.
Publication type:
Article
Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1968, doi. 10.1002/ajmg.a.40362
By:
- Stevenson, Roger E.;
- Vincent, Victoria;
- Spellicy, Catherine J.;
- Friez, Michael J.;
- Chaubey, Alka
Publication type:
Article
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1219, doi. 10.1002/ajmg.a.38144
By:
- Louie, Raymond J.;
- Tan, Queenie K.‐G.;
- Gilner, Jennifer B.;
- Rogers, R. Curtis;
- Younge, Noelle;
- Wechsler, Stephanie B.;
- McDonald, Marie T.;
- Gordon, Barbara;
- Saski, Christopher A.;
- Jones, Julie R.;
- Chapman, Shelley J.;
- Stevenson, Roger E.;
- Sleasman, John W.;
- Friez, Michael J.
Publication type:
Article
A Novel Familial Autosomal Dominant Mutation in ARID1B Causing Neurodevelopmental Delays, Short Stature, and Dysmorphic Features.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3313, doi. 10.1002/ajmg.a.37945
By:
- Smith, Joshua A.;
- Holden, Kenton R.;
- Friez, Michael J.;
- Jones, Julie R.;
- Lyons, Michael J.
Publication type:
Article
Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1573, doi. 10.1002/ajmg.a.37609
By:
- Lindy, Amanda S.;
- Basehore, Monica J.;
- Munisha, Mumingjiang;
- Williams, Aimee Leanne;
- Friez, Michael J.;
- Writzl, Karin;
- Willems, Patrick;
- Dougan, Scott T.
Publication type:
Article
Beyond Ohdo Syndrome: A Familial Missense Mutation Broadens the MED12 Spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3180, doi. 10.1002/ajmg.a.37354
By:
- Langley, Katherine G.;
- Brown, Jordan;
- Gerber, Richard J.;
- Fox, Janelle;
- Friez, Michael J.;
- Lyons, Michael;
- Schrier Vergano, Samantha A.
Publication type:
Article
Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2391, doi. 10.1002/ajmg.a.36647
By:
- Lindy, Amanda S.;
- Bupp, Caleb P.;
- McGee, Stephen J.;
- Steed, Erin;
- Stevenson, Roger E.;
- Basehore, Monica J.;
- Friez, Michael J.
Publication type:
Article
The intellectual disabilities evaluation and advice system (IDEAS): Outcome of the first 55 cases.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1102, doi. 10.1002/ajmg.a.36456
By:
- Hunter, Alasdair G.W.;
- Graham, John M.;
- Neri, Giovanni;
- Rogers, R. Curtis;
- Stevenson, Roger E.;
- Turner, Gillian;
- Friez, Michael J.
Publication type:
Article
MECP2 duplication: Possible cause of severe phenotype in females.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1029, doi. 10.1002/ajmg.a.36380
By:
- Scott Schwoerer, Jessica;
- Laffin, Jennifer;
- Haun, Joanne;
- Raca, Gordana;
- Friez, Michael J.;
- Giampietro, Philip F.
Publication type:
Article
Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability.
Published in:
Frontiers in Molecular Neuroscience, 2018, p. 1, doi. 10.3389/fnmol.2018.00104
By:
- Vallianatos, Christina N.;
- Farrehi, Clara;
- Friez, Michael J.;
- Burmeister, Margit;
- Keegan, Catherine E.;
- Iwase, Shigeki
Publication type:
Article
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
Published in:
Nature Genetics, 2007, v. 39, n. 4, p. 451, doi. 10.1038/ng1992
By:
- Risheg, Hiba;
- Graham Jr., John M.;
- Clark, Robin D.;
- Rogers, R. Curtis;
- Opitz, John M.;
- Moeschler, John B.;
- Peiffer, Andreas P.;
- May, Melanie;
- Joseph, Sumy M.;
- Jones, Julie R.;
- Stevenson, Roger E.;
- Schwartz, Charles E.;
- Friez, Michael J.
Publication type:
Article
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.
Published in:
Nature Genetics, 2004, v. 36, n. 4, p. 339, doi. 10.1038/ng1327
By:
- Mnatzakanian, Gevork N.;
- Lohi, Hannes;
- Munteanu, Iulia;
- Alfred, Simon E.;
- Yamada, Takahiro;
- MacLeod, Patrick J. M.;
- Jones, Julie R.;
- Scherer, Stephen W.;
- Schanen, N. Carolyn;
- Friez, Michael J.;
- Vincent, John B.;
- Minassian, Berge A.
Publication type:
Article
Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation.
Published in:
Human Genetics, 2000, v. 106, n. 1, p. 36, doi. 10.1007/s004390051006
By:
- Friez, Michael J.;
- Essop, Fahmida B.;
- Krause, Amanda;
- Castiglia, Lucia;
- Ragusa, Angela;
- Sossey-Alaoui, Khalid;
- Nelson, Retecher L.;
- May, Melanie M.;
- Michaelis, Ron C.;
- Srivastava, Anand K.;
- Schwartz, Charles E.;
- Stevenson, Roger E.;
- Goldman, Andrea;
- Villard, Laurent;
- Longshore, John W.
Publication type:
Article
Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07404-6
By:
- Latham, Sharissa L.;
- Ehmke, Nadja;
- Reinke, Patrick Y. A.;
- Taft, Manuel H.;
- Eicke, Dorothee;
- Reindl, Theresia;
- Stenzel, Werner;
- Lyons, Michael J.;
- Friez, Michael J.;
- Lee, Jennifer A.;
- Hecker, Ramona;
- Frühwald, Michael C.;
- Becker, Kerstin;
- Neuhann, Teresa M.;
- Horn, Denise;
- Schrock, Evelin;
- Niehaus, Indra;
- Sarnow, Katharina;
- Grützmann, Konrad;
- Gawehn, Luzie
Publication type:
Article
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06713-0
By:
- Latham, Sharissa L.;
- Ehmke, Nadja;
- Reinke, Patrick Y. A.;
- Taft, Manuel H.;
- Eicke, Dorothee;
- Reindl, Theresia;
- Stenzel, Werner;
- Lyons, Michael J.;
- Friez, Michael J.;
- Lee, Jennifer A.;
- Hecker, Ramona;
- Frühwald, Michael C.;
- Becker, Kerstin;
- Neuhann, Teresa M.;
- Horn, Denise;
- Schrock, Evelin;
- Niehaus, Indra;
- Sarnow, Katharina;
- Grützmann, Konrad;
- Gawehn, Luzie
Publication type:
Article
Autistic Disorder: A 20 Year Chronicle.
Published in:
Journal of Autism & Developmental Disorders, 2021, v. 51, n. 2, p. 677, doi. 10.1007/s10803-020-04568-3
By:
- Skinner, Cindy;
- Pauly, Rini;
- Skinner, Steven A.;
- Schroer, Richard J.;
- Simensen, Richard J.;
- Taylor, Harold A.;
- Friez, Michael J.;
- DuPont, Barbara R.;
- Stevenson, Roger E.
Publication type:
Article
The HOPA Gene Dodecamer Duplication Is Not a Significant Etiological Factor in Autism.
Published in:
Journal of Autism & Developmental Disorders, 2000, v. 30, n. 4, p. 355, doi. 10.1023/A:1005583517994
By:
- Michaelis, Ron C.;
- Copeland-Yates, Susan A.;
- Sossey-Alaoui, Khalid;
- Skinner, Cindy;
- Friez, Michael J.;
- Longshore, John W.;
- Simensen, Richard J.;
- Schroer, Richard J.;
- Stevenson, Roger E.
Publication type:
Article
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1482, doi. 10.1038/ejhg.2015.29
By:
- Bronicki, Lucas M;
- Redin, Claire;
- Drunat, Severine;
- Piton, Amélie;
- Lyons, Michael;
- Passemard, Sandrine;
- Baumann, Clarisse;
- Faivre, Laurence;
- Thevenon, Julien;
- Rivière, Jean-Baptiste;
- Isidor, Bertrand;
- Gan, Grace;
- Francannet, Christine;
- Willems, Marjolaine;
- Gunel, Murat;
- Jones, Julie R;
- Gleeson, Joseph G;
- Mandel, Jean-Louis;
- Stevenson, Roger E;
- Friez, Michael J
Publication type:
Article
A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 5, p. 594, doi. 10.1038/ejhg.2013.207
By:
- Leroy, Jules G;
- Sillence, David;
- Wood, Tim;
- Barnes, Jarrod;
- Lebel, Robert Roger;
- Friez, Michael J;
- Stevenson, Roger E;
- Steet, Richard;
- Cathey, Sara S
Publication type:
Article
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al.
Published in:
2008
By:
- Friez, Michael J.;
- Wilson, Joseph A. P.
Publication type:
Letter
Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82).
Published in:
Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01074
By:
- Tejada, María Isabel;
- Villate, Olatz;
- Ibarluzea, Nekane;
- de la Hoz, Ana Belén;
- Martínez-Bouzas, Cristina;
- Beristain, Elena;
- Martínez, Francisco;
- Friez, Michael J.;
- Sobrino, Beatriz;
- Barros, Francisco
Publication type:
Article
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition.
Published in:
Brain: A Journal of Neurology, 2010, v. 133, n. 5, p. 1391, doi. 10.1093/brain/awq071
By:
- Garbern, James Y.;
- Neumann, Manuela;
- Trojanowski, John Q.;
- Lee, Virginia M.-Y.;
- Feldman, Gerald;
- Norris, Joy W.;
- Friez, Michael J.;
- Schwartz, Charles E.;
- Stevenson, Roger;
- Sima, Anders A. F.
Publication type:
Article
Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations.
Published in:
2018
By:
- Warren, Hannah E.;
- Louie, Raymond J.;
- Friez, Michael J.;
- Frías, Jaime L.;
- Leroy, Jules G.;
- Spranger, Jürgen W.;
- Skinner, Steven A.;
- Champaigne, Neena L.
Publication type:
Case Study
Importance of genetic testing in global health during the evaluation of familial microcephaly.
Published in:
Clinical Case Reports, 2016, v. 4, n. 10, p. 968, doi. 10.1002/ccr3.669
By:
- Molinero, Isaac;
- Broman‐Fulks, Jordan;
- Lyons, Michael J.;
- Matheus, Maria Gisele;
- Chaubey, Alka;
- DuPont, Barbara R.;
- Friez, Michael J.;
- Skinner, Steve A.;
- Holden, Kenton R.
Publication type:
Article
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1109, doi. 10.1002/ajmg.a.33833
By:
- Franek, Karl J.;
- Butler, Julia;
- Johnson, John;
- Simensen, Richard;
- Friez, Michael J.;
- Bartel, Frank;
- Moss, Tonya;
- DuPont, Barbara;
- Berry, Katherine;
- Bauman, Margaret;
- Skinner, Cindy;
- Stevenson, Roger E.;
- Schwartz, Charles E.
Publication type:
Article
X-Linked Creatine Transporter Deficiency Presenting as a Mitochondrial Disorder.
Published in:
Journal of Child Neurology, 2010, v. 25, n. 8, p. 1009, doi. 10.1177/0883073809352109
By:
- Hathaway, Samantha C.;
- Friez, Michael;
- Limbo, Kimberly;
- Parker, Colette;
- Salomons, Gajja S.;
- Vockley, Jerry;
- Wood, Tim;
- Abdul-Rahman, Omar A.
Publication type:
Article
Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods.
Published in:
Human Mutation, 2022, v. 43, n. 8, p. 1097, doi. 10.1002/humu.24302
By:
- McKnight, Dianalee;
- Bean, Lora;
- Karbassi, Izabela;
- Beattie, Katelynn;
- Bienvenu, Thierry;
- Bonin, Hope;
- Fang, Ping;
- Chrisodoulou, John;
- Friez, Michael;
- Helgeson, Maria;
- Krishnaraj, Rahul;
- Meng, Linyan;
- Mighion, Lindsey;
- Neul, Jeffrey;
- Percy, Alan;
- Ramsden, Simon;
- Zoghbi, Huda;
- Das, Soma
Publication type:
Article
Inside Back Cover, Volume 41, Issue 1.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. ii, doi. 10.1002/humu.23967
By:
- Hijazi, Hadia;
- Coelho, Fernanda S.;
- Gonzaga‐Jauregui, Claudia;
- Bernardini, Laura;
- Mar, Soe S.;
- Manning, Melanie A.;
- Hanson‐Kahn, Andrea;
- Naidu, SakkuBai;
- Srivastava, Siddharth;
- Lee, Jennifer A.;
- Jones, Julie R.;
- Friez, Michael J.;
- Alberico, Thomas;
- Torres, Barbara;
- Fang, Ping;
- Cheung, Sau Wai;
- Song, Xiaofei;
- Davis‐Williams, Angelique;
- Jornlin, Carly;
- Wight, Patricia A.
Publication type:
Article
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 150, doi. 10.1002/humu.23902
By:
- Hijazi, Hadia;
- Coelho, Fernanda S.;
- Gonzaga‐Jauregui, Claudia;
- Bernardini, Laura;
- Mar, Soe S.;
- Manning, Melanie A.;
- Hanson‐Kahn, Andrea;
- Naidu, SakkuBai;
- Srivastava, Siddharth;
- Lee, Jennifer A.;
- Jones, Julie R.;
- Friez, Michael J.;
- Alberico, Thomas;
- Torres, Barbara;
- Fang, Ping;
- Cheung, Sau Wai;
- Song, Xiaofei;
- Davis‐Williams, Angelique;
- Jornlin, Carly;
- Wight, Patricia A.
Publication type:
Article
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Published in:
Human Mutation, 2019, v. 40, n. 7, p. 842, doi. 10.1002/humu.23748
By:
- Velho, Renata Voltolini;
- Harms, Frederike L.;
- Danyukova, Tatyana;
- Ludwig, Nataniel F.;
- Friez, Michael J.;
- Cathey, Sara S.;
- Filocamo, Mirella;
- Tappino, Barbara;
- Güneş, Nilay;
- Tüysüz, Beyhan;
- Tylee, Karen L.;
- Brammeier, Kathryn L.;
- Heptinstall, Lesley;
- Oussoren, Esmee;
- Ploeg, Ans T.;
- Petersen, Christine;
- Alves, Sandra;
- Saavedra, Gloria Durán;
- Schwartz, Ida V.;
- Muschol, Nicole
Publication type:
Article
Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a006081
By:
- Moss, Tonya;
- May, Melanie;
- Flanagan-Steet, Heather;
- Caylor, Raymond;
- Yong-Hui Jiang;
- McDonald, Marie;
- Friez, Michael;
- McConkie-Rosell, Allyn;
- Steet, Richard
Publication type:
Article
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome.
Published in:
Genes, 2024, v. 15, n. 5, p. 594, doi. 10.3390/genes15050594
By:
- Merritt, Jonathan K.;
- Fang, Xiaolan;
- Caylor, Raymond C.;
- Skinner, Steven A.;
- Friez, Michael J.;
- Percy, Alan K.;
- Neul, Jeffrey L.
Publication type:
Article
Bioelectronic Sensor Technology for Detection of Cystic Fibrosis and Hereditary Hemochromatosis Mutations.
Published in:
Archives of Pathology & Laboratory Medicine, 2003, v. 127, n. 12, p. 1565, doi. 10.5858/2003-127-1565-bstfdo
By:
- Bernacki, Susan H.;
- Farkas, Daniel H.;
- Wenmei Shi, Daniel H.;
- Chan, Vivian;
- Yenbou Liu;
- Beck, Jeanne C.;
- Bailey, Karen Snow;
- Pratt, Victoria M.;
- Monaghan, Kristin G.;
- Matteson, Karla J.;
- Schaefer, Frederick V.;
- Friez, Michael;
- Shrimpton, Antony E.;
- Stenzel, Timothy T.
Publication type:
Article
Whole-Genome and Segmental Homozygosity Confirm Errors in Meiosis as Etiology of Struma Ovarii.
Published in:
Cytogenetic & Genome Research, 2020, v. 160, n. 1, p. 2, doi. 10.1159/000504908
By:
- Henderson, Brittany B.;
- Chaubey, alka;
- Roth, Lawrence M.;
- Robboy, Stanley J.;
- Tarasidis, Gregory;
- Jones, Julie R.;
- Sundermann, John M.;
- Chou, Jeff;
- Craddock, ann L.;
- Stevenson, Leslie;
- Friez, Michael J.;
- Kincaid, Edward H.;
- Stevenson, Roger E.
Publication type:
Article
Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: A clinical-pathological study.
Published in:
Movement Disorders, 2006, v. 21, n. 3, p. 420, doi. 10.1002/mds.20753
By:
- Louis, Elan;
- Moskowitz, Carol;
- Friez, Michael;
- Amaya, Maria;
- Vonsattel, Jean Paul G.
Publication type:
Article
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Published in:
Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2023.1327802
By:
- Montanaro, Federica Alice Maria;
- Mandarino, Alessandra;
- Alesi, Viola;
- Schwartz, Charles;
- Sepulveda, Daniela Judith Claps;
- Skinner, Cindy;
- Friez, Michael;
- Piccolo, Gabriele;
- Novelli, Antonio;
- Zanni, Ginevra;
- Dentici, Maria Lisa;
- Vicari, Stefano;
- Alfieri, Paolo
Publication type:
Article
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Published in:
Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2023.1327802
By:
- Montanaro, Federica Alice Maria;
- Mandarino, Alessandra;
- Alesi, Viola;
- Schwartz, Charles;
- Claps Sepulveda, Daniela Judith;
- Skinner, Cindy;
- Friez, Michael;
- Piccolo, Gabriele;
- Novelli, Antonio;
- Zanni, Ginevra;
- Dentici, Maria Lisa;
- Vicari, Stefano;
- Alfieri, Paolo
Publication type:
Article

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