標(biāo)題: Titlebook: Atlas of Genetic Diagnosis and Counseling; Harold Chen Reference work 2017Latest edition Springer Science+Business Media LLC 2017 Cutaneou [打印本頁(yè)] 作者: Magnanimous 時(shí)間: 2025-3-21 16:37
書目名稱Atlas of Genetic Diagnosis and Counseling影響因子(影響力)
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書目名稱Atlas of Genetic Diagnosis and Counseling被引頻次學(xué)科排名
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書目名稱Atlas of Genetic Diagnosis and Counseling讀者反饋
書目名稱Atlas of Genetic Diagnosis and Counseling讀者反饋學(xué)科排名
作者: 脫水 時(shí)間: 2025-3-21 22:25
Androgen Insensitivity Syndrome,rmal urinary 17-ketosteroid levels, an androgen metabolite, as well as by the absence of treatment effect when 46,XY women were treated with methyl testosterone, suggesting androgen resistance rather than a deficiency (Wilkins 1950; Speroff and Fritz 2005; Oakes et al. 2009).作者: 種族被根除 時(shí)間: 2025-3-22 01:30
Acardia,lenc et al. 1999) and even in quintuplets. Almost all cases reported are monozygotic twins. However, there are reports of dichorionic monozygotic twin gestations with TRAP sequence (French et al. 1998; Gewolb et al. 1983).作者: entitle 時(shí)間: 2025-3-22 06:20
Albinism,; Summers et al. 1996). The prevalence of all forms of albinism varies considerably worldwide, estimated at approximately 1/17,000 and about 1 in 70 people carry a gene for oculocutaneous albinism (OCA) (Gr?nskov et al. 2007).作者: antiquated 時(shí)間: 2025-3-22 09:51
Hiroaki Chiyokura,Fumihiko Kimura, complete androgen insensitivity), delayed or incomplete puberty, primary amenorrhea or virilization in a girl, breast development in a boy, and gross or cyclic hematuria in a boy (unrecognized virilized 46,XX with CAH) (Lee et al. 2006).作者: Intuitive 時(shí)間: 2025-3-22 13:24 作者: 綠州 時(shí)間: 2025-3-22 18:52 作者: conjunctiva 時(shí)間: 2025-3-22 22:23 作者: arterioles 時(shí)間: 2025-3-23 04:58
color photographs and an easy to use outline format.Includes.Dr. Harold Chen shares his almost 50 years of clinical genetics practice in this new edition of a comprehensive pictorial atlas, featuring almost 290 genetic disorders, malformations, and malformation syndromes. The author provides a detai作者: HAIL 時(shí)間: 2025-3-23 05:36 作者: 驕傲 時(shí)間: 2025-3-23 11:58 作者: 博識(shí) 時(shí)間: 2025-3-23 14:43 作者: fidelity 時(shí)間: 2025-3-23 21:28 作者: FOR 時(shí)間: 2025-3-24 01:47
Reference work 2017Latest edition genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color p作者: 記憶 時(shí)間: 2025-3-24 03:04 作者: 平淡而無味 時(shí)間: 2025-3-24 09:37 作者: irreparable 時(shí)間: 2025-3-24 11:00
https://doi.org/10.1007/978-1-84628-955-2group of disorders characterized by absence of epidermis, dermis, and, sometimes, subcutaneous tissue, muscle, or bone on one or more parts of the body. The incidence is estimated to be 1 in 10,000 births.作者: alcoholism 時(shí)間: 2025-3-24 18:55
Springer Series in Advanced Manufacturingterm encompasses a very heterogeneous group of disorders having the common feature of multiple congenital joint contractures. The overall prevalence of arthrogryposis is approximately 1 in 3,000 live births (Hall 1985a, b; Fahy and Hall 1990).作者: 好色 時(shí)間: 2025-3-24 22:45 作者: 敬禮 時(shí)間: 2025-3-24 23:16 作者: Suggestions 時(shí)間: 2025-3-25 04:26
http://image.papertrans.cn/b/image/164238.jpg作者: DEAF 時(shí)間: 2025-3-25 11:22 作者: antidote 時(shí)間: 2025-3-25 14:57
Angelman Syndrome,hter, absent speech, and dysmorphic facial features. The syndrome, which bears his name, was originally called the “happy puppet” syndrome. The incidence is estimated to be 1 in 12,000 to 1 in 20,000 (Clayton-Smith and Pembrey 1992; Petersen et al. 1995; Steffenburg et al. 1996).作者: strdulate 時(shí)間: 2025-3-25 17:57
Aplasia Cutis Congenita,group of disorders characterized by absence of epidermis, dermis, and, sometimes, subcutaneous tissue, muscle, or bone on one or more parts of the body. The incidence is estimated to be 1 in 10,000 births.作者: 暗語 時(shí)間: 2025-3-25 20:02 作者: 無效 時(shí)間: 2025-3-26 04:03
Ataxia-Telangiectasia,pulmonary infections, radiosensitivity, and a predisposition to malignancy. It is the most common cause of progressive cerebellar ataxia in childhood. The prevalence is estimated to be 1 in 40,000–1 in 100,000 live births.作者: indices 時(shí)間: 2025-3-26 04:23
From QTL Mapping to eQTL Analysis,In 1945, Adams and Oliver described congenital transverse limb defects associated with aplasia cutis congenita in a three-generation kindred with typical autosomal dominant inheritance and intrafamilial variable expressivity.作者: Meditate 時(shí)間: 2025-3-26 08:30
From QTL Mapping to eQTL Analysis,Agnathia is an extremely rare lethal neurocristopathy. The disorder has also been termed agnathia-holoprosencephaly spectrum, agnathia-otocephaly complex, agnathia-astomia-synotia, or cyclopia-otocephaly association. The incidence is estimated to be 1 in 70,000 infants (Schiffer et al. 2002).作者: PACT 時(shí)間: 2025-3-26 13:47
Jianhua Han,Shanshan Du,Jikui WenIn 1965, Aicardi et al. reported a new syndrome consisting of spasms in flexion, callosal agenesis, and ocular abnormalities. Actual frequency of the condition is not known, but about 1–4% of cases of infantile spasms from tertiary referral centers may be due to Aicardi syndrome.作者: Crater 時(shí)間: 2025-3-26 17:15 作者: 袋鼠 時(shí)間: 2025-3-26 23:40 作者: 肉體 時(shí)間: 2025-3-27 04:16 作者: osteopath 時(shí)間: 2025-3-27 08:51
https://doi.org/10.1007/978-1-84628-955-2In 1955, Jeune et al. described familial asphyxiating thoracic dystrophy (ATD) in a pair of siblings with severely narrow thoraxes. This condition is also known as Jeune syndrome. Incidence is estimated at 1 per 100,000–130,000 live births (den Hollander et al. 2001).作者: 帶傷害 時(shí)間: 2025-3-27 11:28 作者: STALL 時(shí)間: 2025-3-27 14:33
Adams-Oliver Syndrome,In 1945, Adams and Oliver described congenital transverse limb defects associated with aplasia cutis congenita in a three-generation kindred with typical autosomal dominant inheritance and intrafamilial variable expressivity.作者: perimenopause 時(shí)間: 2025-3-27 18:05
Agnathia,Agnathia is an extremely rare lethal neurocristopathy. The disorder has also been termed agnathia-holoprosencephaly spectrum, agnathia-otocephaly complex, agnathia-astomia-synotia, or cyclopia-otocephaly association. The incidence is estimated to be 1 in 70,000 infants (Schiffer et al. 2002).作者: 卜聞 時(shí)間: 2025-3-27 23:04 作者: BURSA 時(shí)間: 2025-3-28 04:26 作者: zonules 時(shí)間: 2025-3-28 08:38
Alpha-Thalassemia X-Linked Mental Retardation Syndrome,Alpha-thalassemia X-linked mental retardation (ATRX) syndrome, one form of X-linked mental retardation, is characterized by severe mental retardation, typical dysmorphic facies, genital abnormalities, and an unusually mild form of hemoglobin H disease (Gibbons et al. 1995a).作者: 助記 時(shí)間: 2025-3-28 10:35 作者: CERE 時(shí)間: 2025-3-28 16:24
Asphyxiating Thoracic Dystrophy,In 1955, Jeune et al. described familial asphyxiating thoracic dystrophy (ATD) in a pair of siblings with severely narrow thoraxes. This condition is also known as Jeune syndrome. Incidence is estimated at 1 per 100,000–130,000 live births (den Hollander et al. 2001).作者: 艱苦地移動(dòng) 時(shí)間: 2025-3-28 20:04
Atelosteogenesis,In 1982, Maroteaux et al. proposed the term “atelosteogenesis” for a newborn skeletal dysplasia characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine, and other skeletal elements (Maroteaux et al. 1982). Atelosteogenesis encompasses a heterogeneous group of disorders with overlapping phenotypic features.作者: 沒血色 時(shí)間: 2025-3-29 00:40 作者: 兒童 時(shí)間: 2025-3-29 03:42 作者: 粗俗人 時(shí)間: 2025-3-29 10:37 作者: anagen 時(shí)間: 2025-3-29 15:02 作者: 分貝 時(shí)間: 2025-3-29 16:08
Shuixia Guo,Christophe Ladroue,Jianfeng Fengoplasts in the USA and 65,000 on Earth. The incidence for achondroplasia is between 0.5 and 1.5 in 10,000 births. The mutation rate is high and is estimated to be between 1.72 and 5.57 × 10. per gamete per generation. Most infants with achondroplasia are born unexpectedly to parents of average statu作者: 預(yù)示 時(shí)間: 2025-3-29 20:54 作者: PANT 時(shí)間: 2025-3-30 03:11
Hiroaki Chiyokura,Fumihiko Kimurao virilization of genetic females or undervirilization of genetic males who have normal gonads. Less common are disorders of sexual differentiation that involve gonadal dysgenesis (Chi et al. 2008). In females, congenital adrenal hyperplasia (CAH), specifically 21-hydroxylase deficiency, is the most作者: 低能兒 時(shí)間: 2025-3-30 06:23 作者: PET-scan 時(shí)間: 2025-3-30 09:36
https://doi.org/10.1007/978-1-84628-955-2hter, absent speech, and dysmorphic facial features. The syndrome, which bears his name, was originally called the “happy puppet” syndrome. The incidence is estimated to be 1 in 12,000 to 1 in 20,000 (Clayton-Smith and Pembrey 1992; Petersen et al. 1995; Steffenburg et al. 1996).作者: 龍卷風(fēng) 時(shí)間: 2025-3-30 13:42
Integration of Information Systems,ant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly (cutaneous and bony fusion) of the hands and feet. It probably is the most familiar and best-described type of acrocephalosyndactyly. Prevalence is estimated at 1 in 65,000 (approximately 15.5 i作者: set598 時(shí)間: 2025-3-30 19:08 作者: Ingest 時(shí)間: 2025-3-30 22:08 作者: inventory 時(shí)間: 2025-3-31 02:06
https://doi.org/10.1007/978-1-84628-955-2pulmonary infections, radiosensitivity, and a predisposition to malignancy. It is the most common cause of progressive cerebellar ataxia in childhood. The prevalence is estimated to be 1 in 40,000–1 in 100,000 live births.作者: vitrectomy 時(shí)間: 2025-3-31 08:20
Acardia, arterial perfusion (TRAP) syndrome or sequence. This condition is very rare and occurs in 1 in 34,600 births or 1 in 100 monozygotic twins (Gillim and Hendricks 1953) and 1 in 30 monozygotic triplets (Van Allen et al. 1983; Napolitani and Schreiber 1960; Moore et al. 1990; Sanjaghsaz et al. 1998; B作者: Demonstrate 時(shí)間: 2025-3-31 12:54
Achondrogenesis,rked histological cartilage changes. The term was later used to characterize the most severe forms of chondrodysplasia in humans, which were invariably lethal before or shortly after birth. By the 1970s, researchers concluded that achondrogenesis was a heterogeneous group of chondrodysplasias lethal作者: 郊外 時(shí)間: 2025-3-31 15:47 作者: 調(diào)色板 時(shí)間: 2025-3-31 20:28
Albinism,and eyes (oculocutaneous albinism) or may be limited primarily to the eyes (ocular albinism). Current classification of albinism is determined by the affected gene, making the previously used terms “partial or complete” and “tyrosinase positive or tyrosinase negative” obsolete (King and Oetting 2007作者: Coma704 時(shí)間: 2025-3-31 21:57 作者: 存心 時(shí)間: 2025-4-1 02:54 作者: 一起 時(shí)間: 2025-4-1 08:43
